DNA Fatigue Test

About this test

Key Benefits

• Gain insight into your genetic predisposition for fatigue and low energy.

• Simple At-Home Testing: Collect your sample easily using a saliva test, no clinic visit needed.

• Comprehensive Genetic Analysis: Analyze over 240 genes linked to energy, sleep, and recovery.

• Personalized Recommendations: Receive tailored insights based on your unique genetic profile.

• Support Better Decisions: Helps you make informed choices for lifestyle, nutrition, and performance.

What This Test Measures

This test analyzes genetic markers related to multiple aspects of fatigue and energy, including:

Low Energy & Brain Function
Genes linked to neurotransmitters, brain signaling, and mental clarity (brain fog)

Red Blood Cells, Iron & Hemoglobin
Markers involved in oxygen transport, anemia risk, and iron metabolism

Mood & Stress Response
Genes influencing stress regulation, mood balance, and resilience

Exercise, Endurance & Recovery
Genetic factors related to muscle function, endurance, and recovery capacity

Sleep & Fatigue Patterns
Markers linked to insomnia, sleep quality, daytime sleepiness, and circadian rhythm

By analyzing these areas, the test provides insight into how your genetics may influence energy production, recovery, and overall fatigue levels.

Who Is This Test For

This test is suitable for individuals who:

• Experience chronic fatigue or low energy

• Struggle with sleep issues or poor recovery

• Have symptoms related to anemia or low iron

• Experience brain fog or difficulty concentrating

• Want to optimize performance, recovery, and well-being

How It Works

Order Your Kit: Purchase your test online.
Collect Your Sample: Provide a saliva sample using the collection kit.
Send It Back: Mail your sample to the laboratory using the prepaid return envelope.
Receive Results: Access your detailed digital results within 3–5 weeks.

Sample Collection

The sample is collected using a simple saliva test at home. You provide a small saliva sample in the collection tube, which contains a stabilizing solution to preserve the DNA during transport. This method is non-invasive and easy to perform.

Data Privacy and Handling

Your DNA sample is anonymized and linked only to your unique test ID. The original sample material is destroyed after analysis, and your data is not shared with third parties. You also have the option to delete your results after receiving them.

About the Result Reports

Once your analysis is complete, you will receive three separate DNA reports based on your selected tests. These are usually delivered at the same time.

Each report is clear and easy to understand, including your genetic results, explanations, and personalized recommendations.

You will also have access to an example report. If you need help interpreting your results, our support team is available.

Please note: Reports are available in English only.

ISO-Certified Lab and Analysis

Your sample is analyzed in an ISO-certified laboratory using Illumina GSA Microarray, a SNP-based DNA genotyping method, ensuring accurate and reliable results.

Biomarkers included

• PTPRT: PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a gene that encodes a protein belonging to the protein tyrosine phosphatase family, which is important for cell signaling. It plays a role in regulating cellular processes such as cell growth and differentiation. Mutations in PTPRT have been linked to several cancers, particularly colorectal cancer, due to its involvement in signaling
• MDFIC2: MDFIC2: MDFIC2, or MyoD Family Inhibitor Domain Containing 2, is a gene that has not been extensively studied but is believed to be involved in muscle development and differentiation. It may play a role in regulating myogenic factors, which are essential for muscle cell growth and repair. Understanding the function of MDFIC2 could provide insights into muscle development disorders or muscle regene
• COL2A1: COL2A1 (Collagen Type II Alpha 1 Chain): COL2A1 is a gene that encodes type II collagen, a key structural protein found predominantly in cartilage. This collagen plays an essential role in maintaining cartilage strength and integrity. Mutations in COL2A1 are linked to several skeletal disorders, including osteoarthritis and different forms of chondrodysplasia.
• GLO1: GLO1 (Glyoxalase I): GLO1 is a gene that encodes an enzyme responsible for detoxifying methylglyoxal, a harmful byproduct of metabolism. GLO1 helps protect cells against oxidative stress and is involved in conditions such as diabetes and other diseases where glyoxalase activity is important.
• ERG: ERG (ETS Transcription Factor ERG) is a gene that encodes a member of the ETS family of transcription factors, which are involved in regulating gene expression. ERG plays an important role in blood vessel formation, blood cell development, and bone growth. Alterations in ERG have been linked to several cancers, including prostate cancer and Ewing sarcoma.
• MEIS1: MEIS1 (Meis Homeobox 1): MEIS1 is a transcription factor that plays a key role in early embryonic development and organ formation. It is involved in processes such as limb development and hematopoiesis. MEIS1 has also been linked to restless legs syndrome (RLS) and is associated with various neurological and developmental disorders.
• CEP120: CEP120 (Centrosomal Protein 120): CEP120 is a protein essential for centriole duplication and maintenance. It plays a key role in organizing the microtubule cytoskeleton, which is important for cell division and intracellular transport. Mutations in CEP120 have been linked to ciliopathies and developmental disorders.
• FGGY: FGGY (FGGY Carbohydrate Kinase Domain Containing) is a gene that encodes a protein involved in carbohydrate metabolism. While its specific functions are not yet fully understood, proteins in this family typically play roles in energy production and may be linked to metabolic processes and disorders.
• LINGO1: LINGO1 (Leucine Rich Repeat and Ig Domain Containing 1): LINGO1 is a protein that plays a critical role in neural development, especially in the myelination of neurons. It functions as a negative regulator of oligodendrocyte differentiation and myelination. LINGO1 has been linked to neurodegenerative diseases such as multiple sclerosis and Parkinson’s disease. Inhibiting LINGO1 is being studied as
• PIEZO1: PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1): PIEZO1 is a mechanically activated ion channel that detects physical forces such as pressure and stretch in tissues like blood vessels and the lungs. It is essential for vascular development, blood pressure control, and cell volume regulation. Variants in the PIEZO1 gene are associated with hereditary xerocytosis — a disorder marked by
• CHD1L: CHD1L (Chromodomain Helicase DNA Binding Protein 1-Like): CHD1L is a member of the chromodomain helicase DNA-binding family, involved in chromatin remodeling and DNA repair. It plays a key role in maintaining genomic stability and has been linked to the development and progression of several cancers, especially liver cancer.
• NEDD4L: NEDD4L (NEDD4 Like E3 Ubiquitin Protein Ligase): NEDD4L is a gene that plays a key role in regulating ion transport and cellular signaling pathways. It is especially important in controlling sodium and water balance, making it relevant to hypertension and cardiovascular health. Its function in maintaining homeostasis highlights its significance in various health conditions.
• PDE2A: PDE2A (Phosphodiesterase 2A): PDE2A is an enzyme that regulates cellular signaling by breaking down the cyclic nucleotides cyclic AMP (cAMP) and cyclic GMP (cGMP). It plays important roles in processes like smooth muscle contraction and cardiac function. PDE2A inhibitors are being studied for their potential in treating heart diseases and other related conditions.
• CD28: CD28 (CD28 Molecule): CD28 is a co-stimulatory receptor on T cells that is essential for their full activation and survival. It plays a critical role in the immune response, including the development of T cell memory. CD28 signaling is also a key target for immunotherapeutic drugs, particularly in the treatment of cancer and autoimmune diseases.
• NRG1: NRG1 (Neuregulin 1): NRG1 is a signaling protein that plays a key role in neural development and synaptic plasticity. It is essential for the proper formation and function of the nervous system and has been associated with various neurological and psychiatric disorders, including schizophrenia.
• COL5A1: COL5A1 (Collagen Type V Alpha 1 Chain): COL5A1 is a gene that encodes a component of type V collagen, a protein essential for the structure and integrity of connective tissues. Variants in COL5A1 are linked to Ehlers-Danlos syndrome, a condition marked by joint hypermobility, skin hyperextensibility, and increased tissue fragility.
• KDR: KDR: KDR (also known as VEGFR2) is a gene that plays a central role in angiogenesis — the formation of new blood vessels. It encodes a receptor for vascular endothelial growth factor (VEGF), which is essential for blood vessel growth, development, and repair. Alterations in KDR can influence processes in cancer, where angiogenesis supports tumor growth, as well as in cardiovascular diseases.
• NUP93: NUP93 (Nucleoporin 93): NUP93 is a protein that forms part of the nuclear pore complex, which controls the movement of molecules between the nucleus and the cytoplasm. It is essential for maintaining nuclear envelope integrity and regulating gene expression. Mutations in NUP93 have been linked to developmental disorders and certain cancers.
• NSUN3: NSUN3 (NOP2/Sun RNA Methyltransferase Family Member 3) is a gene that encodes an RNA methyltransferase involved in modifying mitochondrial tRNAs. This modification is important for proper mitochondrial protein synthesis and function. Mutations in NSUN3 have been linked to mitochondrial diseases.
• ELAVL2: ELAVL2 (ELAV Like RNA Binding Protein 2): ELAVL2 is an RNA-binding protein that participates in post-transcriptional regulation of gene expression. As a member of the ELAVL family, it plays key roles in mRNA stabilization and translation. ELAVL2 has been linked to neurodevelopmental disorders and various neurological conditions.
• RGMA: RGMA (Repulsive Guidance Molecule A): RGMA is a protein that regulates axon guidance during neural development. It plays a key role in directing neuronal migration and axon growth through repulsive signaling pathways. RGMA is essential for the formation of neural circuits and is linked to certain neurodevelopmental disorders.
• FADS2: FADS2 (Fatty Acid Desaturase 2) is an enzyme that plays a key role in the production of polyunsaturated fatty acids — vital components of cell membranes and precursors to important signaling molecules. Differences in FADS2 activity can influence how the body processes essential fatty acids and are associated with metabolic and inflammatory health outcomes.
• CDH19: CDH19 (Cadherin 19): CDH19 is a member of the cadherin family, which are essential molecules for cell-cell adhesion and tissue integrity. CDH19 plays a particularly important role in the nervous system, supporting neuron-neuron interactions and contributing to neural development. It has also been studied in connection with neurodevelopmental disorders, including autism spectrum disorders.
• PPP1R3B: PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B): PPP1R3B is a protein that regulates the activity of protein phosphatase 1 (PP1), an enzyme involved in glycogen metabolism. It plays a key role in controlling glycogen storage in the liver and contributes to maintaining glucose homeostasis, with implications for metabolic health and disorders.
• LSAMP: LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule primarily expressed in the limbic system of the brain. It plays a key role in synaptic plasticity and is involved in neural development and function. LSAMP has been studied in relation to neuropsychiatric disorders and may have implications for conditions such as schizophrenia.
• SLC30A8: SLC30A8 (Solute Carrier Family 30 Member 8): SLC30A8 is a protein involved in the transport of zinc and the secretion of insulin from pancreatic beta cells. It plays a key role in maintaining glucose homeostasis and is considered a potential target for the treatment of type 2 diabetes.
• GSTP1: GSTP1 (Glutathione S-Transferase Pi 1): GSTP1 is an enzyme involved in detoxification processes by conjugating reduced glutathione to a variety of both external and internal compounds. Variations in GSTP1 are linked to susceptibility to cancer and other diseases where detoxification plays a key role.
• NR3C1: NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1): NR3C1 is a gene that encodes the glucocorticoid receptor, which mediates the actions of glucocorticoids — a class of steroid hormones. This receptor is essential for regulating stress responses, immune activity, and metabolism. Dysregulation of NR3C1 has been linked to stress-related disorders, inflammatory conditions, and metabolic diseases,
• RGS18: RGS18 (Regulator of G Protein Signaling 18): RGS18 is a protein that reflects the regulation of G protein-coupled receptor signaling, particularly in hematopoietic cells. It plays important roles in platelet function and immune responses, and its dysregulation may affect blood coagulation and contribute to immune system disorders.
• THRB: Thyroid Hormone Receptor Beta: THRB is a gene that encodes a receptor for thyroid hormones, which play essential roles in regulating metabolism, growth, and development. Mutations in THRB can cause resistance to thyroid hormone (RTH), a condition marked by reduced sensitivity to thyroid hormones, impacting metabolic functions and growth.
• PSD3: PSD3 (Pleckstrin And Sec7 Domain Containing 3) is a gene that encodes a protein involved in intracellular trafficking and signaling. It contains a Sec7 domain, which is associated with guanine nucleotide exchange factors that activate ARF GTPases, key players in vesicle formation and trafficking. Dysfunction in PSD3 may impact cellular communication and transport processes.
• CYBA: CYBA (Cytochrome B-245 Alpha Chain) is a gene that encodes a key component of the NADPH oxidase complex, which enables immune cells—particularly phagocytes—to produce reactive oxygen species (ROS). These ROS are essential for killing invading pathogens. Mutations in CYBA can impair this defense mechanism, leading to chronic granulomatous disease, a condition marked by recurrent infections.
• TMEM51: TMEM51 (Transmembrane Protein 51): TMEM51 is a protein associated with membrane organization and intracellular trafficking. While its precise functions remain unclear, it is thought to be involved in intracellular transport and cell signaling pathways.
• SLC16A1: SLC16A1 (Solute Carrier Family 16 Member 1): SLC16A1,also known as MCT1, is a transporter protein that facilitates the rapid movement of lactate and other monocarboxylates across cell membranes. It plays a key role in lactate metabolism, which is important in various physiological processes like exercise and pathological conditions such as cancer metabolism.
• GPR83: GPR83 (G Protein-Coupled Receptor 83): GPR83 (G Protein-Coupled Receptor 83) is a receptor found in the brain that belongs to the G protein-coupled receptor (GPCR) family. It plays a role in regulating appetite and maintaining energy balance, and has been studied for its involvement in feeding behavior and metabolic disorders.
• FTO: The FTO (Fat Mass and Obesity-Associated) gene is a key genetic factor linked to obesity and body mass index (BMI). It plays an important role in regulating metabolic processes such as energy balance and fat storage. Variations in the FTO gene can influence appetite control and how the body expends energy, making it central to understanding obesity risk and potential treatments.
• STEAP1B: STEAP1B (STEAP Family Member 1B) is a protein belonging to the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family. It is involved in metalloreduction, specifically the reduction of iron and copper ions. STEAP1B plays a role in regulating cellular iron homeostasis and metabolism, which are essential for numerous physiological functions. While its precise role in human health and di
• DACH1: DACH1 (Dachshund Homolog 1) is a transcription factor that helps regulate gene expression in cells. It plays important roles in processes such as development and cell differentiation. Depending on the context, especially in different types of cancer, DACH1 can function either as a tumor suppressor or an oncogene.
• TMEM72: TMEM72 (Transmembrane Protein 72): TMEM72 is a transmembrane protein whose functions are not yet fully characterized. Like other transmembrane proteins, TMEM72 is believed to play roles in cellular signaling, transport, and communication. Its specific involvement in cellular processes and potential implications in human diseases are currently under investigation.
• ZCCHC7: ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is a member of the zinc finger protein family, known for their roles in DNA binding and gene regulation. Although its exact function is not fully understood, ZCCHC7 is believed to participate in processes such as transcriptional regulation, RNA processing, and DNA repair, influencing various cellular activities and potentially contributing to dis
• PSG9: PSG9 (Pregnancy-Specific Glycoprotein 9): PSG9 is a gene that encodes a protein from the pregnancy-specific glycoprotein family, which is involved in immune regulation during pregnancy. These proteins may help support maternal tolerance of the fetus and contribute to fetal development. While the specific role of PSG9 is still being studied, it may influence reproductive health and pregnancy outcom
• SCGN: SCGN (Secretagogin): SCGN is a gene that encodes a calcium-binding protein predominantly expressed in neuroendocrine cells. It plays a role in regulating hormone secretion and cellular signaling. SCGN may also contribute to neuroprotective mechanisms and has been studied for its potential involvement in neurological disorders, including Alzheimer’s disease.
• DRD3: DRD3 (Dopamine Receptor D3): DRD3 is a gene that encodes a dopamine receptor subtype expressed in the brain. It is involved in regulating cognitive, emotional, and motor functions. Variants in DRD3 have been studied for their potential roles in schizophrenia, Parkinson’s disease, and susceptibility to addictive behaviors.
• ENG: ENG (Endoglin): ENG is a glycoprotein that functions as part of the TGF-beta receptor complex and plays a key role in angiogenesis, vascular development, and remodeling. Mutations in this gene are linked to hereditary hemorrhagic telangiectasia, a condition characterized by abnormal blood vessel formation.
• CCL8: CCL8 (C-C Motif Chemokine Ligand 8): CCL8 is a chemokine involved in the immune response. Also known as MCP-2, it plays a key role by attracting and activating white blood cells. CCL8 is important in inflammation and the body’s defense against infections, and has been linked to various inflammatory and autoimmune diseases.
• TMC5: TMC5 (Transmembrane Channel Like 5): TMC5 is a protein belonging to the TMC family, a group thought to function as ion channels or transporters. While its precise role remains unclear, TMC5 may play a part in sensory perception or maintaining cellular balance. Research is ongoing to understand its function and potential relevance to health and disease.
• MAPRE1: MAPRE1 (Microtubule-Associated Protein, RP/EB Family, Member 1): MAPRE1, also known as EB1, is a protein involved in stabilizing and regulating microtubules, essential components of the cell’s cytoskeleton. It plays a key role in cell division, chromosome segregation, and is important for neuronal development and cancer biology.
• APEH: APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that plays a key role in protein turnover by degrading acetylated peptides. It is involved in processing damaged or misfolded proteins, helping to maintain protein homeostasis. Dysfunctions in APEH can impact neurodegenerative processes and the body’s response to oxidative stress.
• C1D: C1D (Nuclear Nucleic Acid-Binding Protein C1D) is a gene that encodes a nuclear protein involved in binding nucleic acids and assembling ribonucleoprotein complexes. It plays a role in RNA processing and regulating transcription. C1D is also linked to DNA repair and may have important implications in cancer biology.
• TRIB2: TRIB2 (Tribbles Pseudokinase 2): TRIB2 is a member of the tribbles family, involved in regulating key cellular processes such as cell proliferation and survival. It functions as a modulator of signaling pathways and has been associated with cancer development, particularly in leukemias.
• SEMA6D: SEMA6D (Semaphorin 6D): SEMA6D is a gene that encodes a protein belonging to the semaphorin family, which is involved in axon guidance and neural development. SEMA6D plays a role in neuronal signaling and migration during development. It may influence the formation of neural circuits and has implications in neurodevelopmental disorders.
• SERTAD2: SERTAD2 (SERTA Domain Containing 2): SERTAD2 is a multifunctional protein that contains a SERTA domain, which is linked to cell cycle regulation. In addition to its role in cell cycle progression, SERTAD2 participates in key cellular processes such as DNA replication, DNA repair, and chromatin remodeling. Its interactions with various transcription factors and co-regulators make it an important re
• CHRNB3: CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit) is a protein that forms part of the nicotinic acetylcholine receptor, which plays a key role in cholinergic neurotransmission. Variations in the CHRNB3 gene have been linked to nicotine dependence and related behavioral traits, suggesting its involvement in the brain’s addiction pathways and neural circuitry regulation.
• LGR4: LGR4 (Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 4): LGR4 is a G protein-coupled receptor that plays a key role in signaling pathways, including Wnt signaling. It is important for tissue development, maintenance, and homeostasis, and has been studied for its roles in stem cell biology and organ regeneration.
• LMF2: LMF2 (Lipase Maturation Factor 2): LMF2 is a gene that encodes a protein essential for the maturation and proper functioning of lipases, enzymes critical for lipid metabolism. It is involved in the processing and activation of lipases within the endoplasmic reticulum. Defects in LMF2 may contribute to dyslipidemia and other metabolic disorders related to lipid metabolism.
• MRPS9: MRPS9 (Mitochondrial Ribosomal Protein S9): MRPS9 is a component of the mitochondrial ribosome, essential for the synthesis of proteins within mitochondria. It plays a vital role in producing proteins required for mitochondrial function and energy generation. Impairments in MRPS9 can reduce mitochondrial efficiency and may be associated with mitochondrial disorders, influencing overall cellular en
• IRX2: IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor belonging to the Iroquois homeobox gene family. It plays a key role in embryonic development by regulating the patterning and formation of tissues such as the heart and nervous system. Dysregulation of IRX2 has been linked to developmental disorders and may also contribute to cancer.
• MAP2K5: MAP2K5 (Mitogen-Activated Protein Kinase Kinase 5): MAP2K5 is a kinase enzyme that functions within the mitogen-activated protein kinase (MAPK) signaling pathway. It plays a role in cellular responses to growth factors, stress, and cytokines. MAP2K5 is involved in processes such as cell growth, differentiation, and apoptosis. Dysregulation of MAP2K5 may contribute to the development of cancer and
• RABGAP1L: RABGAP1L (RAB GTPase Activating Protein 1-Like): RABGAP1L is a gene that encodes a protein involved in intracellular membrane trafficking by regulating RAB GTPases. It plays a key role in vesicle transport and overall cellular logistics. Dysregulation of RABGAP1L may disrupt cellular transport mechanisms and has been studied in relation to neurological disorders, where proper membrane trafficking
• UPB1: UPB1 (Beta-Ureidopropionase 1): UPB1 is an enzyme involved in the breakdown of pyrimidines, which are building blocks of nucleotides in the body. Proper UPB1 function is essential for nucleotide metabolism, and deficiencies can cause beta-ureidopropionase deficiency, a rare condition linked to neurological symptoms and developmental delays.
• SLC44A5: SLC44A5 (Solute Carrier Family 44 Member 5) is a gene that encodes a membrane transport protein belonging to the solute carrier family. Although its specific functions and substrates are not fully defined, SLC44A5 is thought to contribute to essential cellular transport processes involved in maintaining homeostasis and normal cell function.
• UBXN2A: UBXN2A (UBX Domain Protein 2A): UBXN2A is involved in the ubiquitin-proteasome system, which regulates protein degradation and quality control in cells. It may play a role in responding to cellular stress and regulating protein turnover, processes that are essential for maintaining cellular health and preventing disease.
• TENT5A: TENT5A (Terminal Nucleotidyltransferase 5A): TENT5A is an enzyme that catalyzes the addition of nucleotides to the 3' end of RNA molecules. It plays a role in RNA processing and modification. Although its specific functions are still being studied, TENT5A may influence important cellular processes.
• CELF4: CELF4 (CUGBP, Elav-Like Family Member 4): CELF4 is a gene that encodes an RNA-binding protein belonging to the CUGBP/Elav-like family. Proteins like CELF4 play important roles in RNA processing and the post-transcriptional regulation of gene expression. CELF4’s functions likely involve RNA metabolism and regulation, affecting a range of cellular processes.
• EPAS1: EPAS1 (Endothelial PAS Domain Protein 1) is a transcription factor, also known as HIF-2α, that helps the body respond to low oxygen (hypoxia) in tissues. It regulates genes involved in red blood cell production, iron metabolism, and blood vessel formation. EPAS1 is linked to high-altitude adaptation and plays a role in certain diseases, including some cancers.
• GABPB1: GABPB1 (GA Binding Protein Transcription Factor Beta Subunit 1) is a gene that encodes a subunit of a transcription factor involved in regulating genes related to cell growth and metabolism. It plays a role in cellular transcription control, and changes in GABPB1 expression have been linked to various cancers, reflecting its influence on cell proliferation and survival.
• OLFM4: OLFM4 (Olfactomedin 4): OLFM4 is a gene that encodes a secreted protein expressed in various tissues, including the gastrointestinal tract. While its functions are not fully understood, OLFM4 is associated with the regulation of stem cell proliferation and differentiation in the gut, indicating a potential role in tissue regeneration and maintenance.
• CFH: CFH (Complement Factor H): CFH is a gene that plays a key role in regulating the complement pathway, an important part of the body’s innate immune system. The complement system provides a rapid defense against microbial infections. CFH produces a protein that controls complement activity, helping to prevent damage to the body’s own cells. Mutations in the CFH gene are associated with diseases such
• ADRB3: ADRB3 (Adrenoceptor Beta 3): ADRB3 is a gene that encodes a beta-adrenergic receptor, primarily expressed in adipose tissue. It plays a key role in regulating lipolysis and thermogenesis, contributing to energy expenditure and body weight management. Variants of this gene have been studied for their potential influence on obesity and metabolic health.
• CCDC138: CCDC138 (Coiled-Coil Domain Containing 138): CCDC138 is a protein that is less well characterized but is potentially involved in cellular structure due to its coiled-coil domain. These domains often play a role in protein-protein interactions and cytoskeletal organization. Further research is needed to clarify its specific functions and its relevance to health and disease.
• PMAIP1: PMAIP1 (Phorbol-12-Myristate-13-Acetate-Induced Protein 1): PMAIP1,also known as Noxa, is a pro-apoptotic protein that plays a key role in regulating programmed cell death (apoptosis). It functions within the intrinsic apoptosis pathway and helps trigger cell death in response to cellular stress. PMAIP1 has important implications in cancer therapy, as its activation can increase the sensitivity of
• ACTL7B: ACTL7B (Actin-Like 7B) is a member of the actin family, a group of proteins that form key parts of the cell’s cytoskeleton. Actins play important roles in maintaining cell shape, enabling movement, and supporting cell division. While the exact function of ACTL7B is not yet fully understood, it is believed to contribute to cell structure and activity, especially in reproductive cells.
• HFE: HFE (Homeostatic Iron Regulator): HFE is a gene that plays a key role in regulating iron absorption and maintaining iron balance in the body. Mutations in HFE can cause hereditary hemochromatosis, a condition marked by excessive iron buildup, which may result in damage to organs.
• MTNR1B: MTNR1B (Melatonin Receptor 1B): MTNR1B is a gene that encodes one of the receptors for melatonin, a hormone responsible for regulating sleep and circadian rhythms. This receptor plays a key role in maintaining the body’s internal clock and is also involved in glucose regulation. Variations in MTNR1B have been associated with an increased risk of type 2 diabetes and disrupted sleep patterns.
• VWC2L: VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like):The von Willebrand factor C domain-containing protein 2-like (VWC2L) is a lesser-known protein characterized by the presence of a von Willebrand factor C domain — a structural feature commonly linked to extracellular matrix interactions and cell adhesion. It is thought to contribute to tissue development and structural integrity, tho
• ERBIN: ERBIN (Erb-B2 Receptor Tyrosine Kinase 2 Interacting Protein) is a protein that interacts with the ErbB2 receptor, which is important for cell growth and differentiation. ERBIN helps regulate signaling pathways linked to ErbB2 and other cellular processes, and it has been studied for its potential role in cancers where ErbB2 activity is involved, such as breast cancer.
• NRIP1: NRIP1 (Nuclear Receptor Interacting Protein 1): NRIP1 is a gene that encodes a protein involved in nuclear receptor signaling. It acts as a coactivator for several nuclear receptors, including estrogen receptors (ERs) and peroxisome proliferator-activated receptors (PPARs). NRIP1 helps regulate gene expression in response to hormonal signals and is linked to processes such as metabolism and cell g
• MXRA8: MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8 is a gene that encodes a protein involved in matrix remodeling, an important process for tissue development and repair. While its specific functions are still being studied, MXRA8’s role in extracellular matrix interactions suggests it may contribute to tissue homeostasis and regeneration, with potential implications for tissue engineering and
• MPZL2: MPZL2 (Myelin Protein Zero-Like 2): MPZL2 is a gene that encodes a protein belonging to the myelin protein zero (MPZ) family, involved in the formation and maintenance of myelin in the peripheral nervous system. Myelin is essential for the efficient transmission of nerve impulses. Mutations in myelin-related genes like MPZL2 may contribute to peripheral neuropathies.
• ADAMTS16: ADAMTS16 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 16): ADAMTS16 is an enzyme involved in the cleavage of extracellular matrix components. It plays a role in tissue remodeling and development. Dysregulation of ADAMTS16 has been linked to conditions such as kidney and cardiovascular diseases, and it may also have implications for fertility.
• KAZN: KAZN (Kazrin, Periplakin Interacting Protein): KAZN is a protein that interacts with periplakin and is involved in cellular processes related to cytoskeletal organization and cell adhesion. It may contribute to skin integrity and wound healing, though its wider biological functions are still being studied.
• GPM6A: GPM6A (Glycoprotein M6A): GPM6A is a gene that encodes a glycoprotein mainly expressed in the nervous system. It plays a critical role in neurite outgrowth and the formation of neuronal networks, as well as in the development and maintenance of the myelin sheath, which is essential for efficient nerve signal transmission. GPM6A is linked to neurological disorders such as schizophrenia and bipolar
• GBP3: GBP3 (Guanylate Binding Protein 3) is a member of the guanylate-binding protein family that plays a key role in the immune system. It is especially important for defending against intracellular pathogens, including viruses and bacteria. GBP3 also contributes to regulating inflammatory responses during infections.
• TOX3: TOX3 (TOX High Mobility Group Box Family Member 3): TOX3 is a member of the high mobility group (HMG) box family and plays a role in transcriptional regulation. It has been studied in connection with breast cancer, as genetic variants in TOX3 have been linked to an increased risk of developing the disease.
• CNTN2: CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a key role in the development and function of the nervous system. It is involved in the formation of neural circuits and synaptic connections. Variations or mutations in CNTN2 have been associated with neurodevelopmental disorders and may impact neurological processes such as learning and memory.
• SETBP1: SETBP1 (SET Binding Protein 1): SETBP1 is a protein that interacts with SET, a key regulator of histone acetylation and chromatin remodeling. SETBP1 is involved in gene regulation and has been linked to developmental disorders and leukemia.
• PTPRD: PTPRD (Protein Tyrosine Phosphatase Receptor Type D): PTPRD is a protein that functions as a tyrosine phosphatase receptor involved in cell signaling and regulation. It modulates cellular processes by removing phosphate groups from specific protein substrates. PTPRD has been studied for its role in cancer, where it may act as a tumor suppressor.
• SIM1: SIM1 (Single-Minded Homolog 1): SIM1 is a transcription factor that plays a key role in the development of specific brain regions, including the hypothalamus. It is involved in regulating appetite and maintaining energy balance. Mutations in SIM1 have been linked to obesity and various metabolic disorders.
• LAX1: LAX1 (Lymphocyte Transmembrane Adaptor 1): LAX1 is a gene that encodes a transmembrane protein primarily found in lymphocytes. It contributes to immune cell signaling and activation, playing a role in regulating the development and function of lymphocytes.
• PLCB1: PLCB1 (Phospholipase C Beta 1): PLCB1 is a gene that encodes an enzyme involved in signal transduction pathways. This enzyme catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to generate inositol trisphosphate (IP3) and diacylglycerol (DAG), both important second messengers. PLCB1 plays a role in various cellular processes, including cell proliferation, differentiation, and
• GRM5: GRM5 (Metabotropic Glutamate Receptor 5): GRM5 is a member of the metabotropic glutamate receptor family and plays a key role in neuronal signaling. It is involved in modulating synaptic transmission and plasticity. Dysregulation of GRM5 has been linked to neurological disorders such as schizophrenia.
• PATJ: PATJ (Pals1-Associated Tight Junction Protein) is a protein linked to tight junctions, which are key structures for preserving the integrity of epithelial and endothelial cell layers. PATJ plays an important role in establishing cell polarity and forming cell-cell junctions. It is essential for maintaining tissue barrier function.
• BCL11A: BCL11A (B-Cell CLL/Lymphoma 11A): BCL11A is a transcription factor essential for the development and function of blood cells. It plays a key role in regulating fetal hemoglobin levels and is a major focus in research on sickle cell disease and beta-thalassemia. BCL11A is also involved in the progression of certain blood cancers.
• MAN1A2: MAN1A2 (Mannosidase Alpha Class 1A Member 2): MAN1A2 is an enzyme that participates in the modification of N-linked oligosaccharides during glycoprotein biosynthesis. It contributes to protein processing and quality control in the endoplasmic reticulum, helping ensure proper protein folding and maintaining cellular balance.
• LRATD1: LRATD1 (Lecithin Retinol Acyltransferase Domain Containing 1): LRATD1 is a gene that encodes a protein with a domain similar to lecithin retinol acyltransferase (LRAT), an enzyme involved in vitamin A metabolism. While its exact functions remain under investigation, LRATD1 is thought to play a role in processes related to vitamin A utilization and regulation.
• ADAL: ADAL (Adenosine Deaminase-Like): ADAL (Adenosine Deaminase-Like) is a protein similar to adenosine deaminase (ADA) and is involved in purine metabolism. It plays a key role in the breakdown of adenosine, a molecule important for cellular energy transfer and signaling. ADAL’s activity in adenosine metabolism is essential for maintaining cellular energy balance and nucleotide homeostasis.
• TSHZ3: TSHZ3 (Teashirt Zinc Finger Homeobox 3): TSHZ3 is a transcription factor that plays a key role in embryonic development and tissue differentiation. It is involved in the formation and development of multiple organs and tissues. Mutations in TSHZ3 can result in developmental abnormalities.
• CCDC167: CCDC167 (Coiled-Coil Domain Containing 167): CCDC167 is a gene that encodes a protein featuring a coiled-coil domain, a structural motif known for facilitating protein-protein interactions. While its precise biological roles are still being investigated, CCDC167 may participate in important cellular processes yet to be fully defined.
• ADRB2: ADRB2 (Adrenoceptor Beta 2): ADRB2 is a gene that encodes the beta-2-adrenergic receptor, a protein involved in the body’s ‘fight or flight’ response. This receptor plays a key role in relaxing smooth muscles in the airways and blood vessels and serves as a target for medications used to treat asthma and COPD. Genetic variations in ADRB2 can influence an individual’s response to these treatments.
• SLC20A2: SLC20A2 (Solute Carrier Family 20 Member 2): SLC20A2 is a phosphate transporter that plays a key role in maintaining phosphate homeostasis. Mutations in this gene are linked to primary familial brain calcification, a disorder marked by abnormal calcium-phosphate deposits in the brain.
• MEF2C: MEF2C (Myocyte Enhancer Factor 2C): MEF2C is a transcription factor that plays a vital role in muscle development and neuronal differentiation. It is essential for proper brain development and function, with mutations linked to severe intellectual disability, autistic features, and epilepsy. In cardiac muscle, MEF2C is critical for heart formation and development, where dysfunctions can result in
• ASB3: ASB3 (Ankyrin Repeat and SOCS Box Protein 3) is a gene that encodes a protein containing ankyrin repeats and a SOCS box domain, both of which are involved in cellular protein regulation. ASB3 plays a role in targeting specific proteins for ubiquitination and degradation, contributing to the control of protein turnover and cellular signaling pathways.
• IL1B: IL1B (Interleukin 1 Beta): IL1B is a key cytokine involved in the inflammatory response and a wide range of immune functions. It activates and recruits immune cells to sites of infection or injury and plays a role in inducing fever. Dysregulation of IL1B is linked to chronic inflammatory and autoimmune conditions such as rheumatoid arthritis, gout, and sepsis. As a powerful mediator of inflammatio
• ANKK1: ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is a gene associated with signal transduction and may play a role in regulating dopamine receptors, which are essential for brain function. Variants near ANKK1 have been linked to neuropsychiatric disorders and addiction, potentially due to their impact on dopamine signaling.
• THAP2: THAP2 (THAP Domain Containing 2): THAP2 is a member of the THAP domain-containing protein family, characterized by a specific DNA-binding domain. These proteins are involved in cell proliferation, apoptosis, and regulation of gene expression. While the specific functions of THAP2 are not fully understood, it may play a role in transcriptional regulation.
• MRO: MRO (Maestro Heat-Like Repeat Family Member): MRO is a protein containing a maestro heat-like repeat, indicating a potential role in the heat shock response or cellular stress adaptation. Its exact functions in human physiology and possible links to disease remain unclear, making it an active area of ongoing research.
• TMEM132B: TMEM132B (Transmembrane Protein 132B): TMEM132B is a membrane-bound protein implicated in neuronal signaling and synaptic plasticity. It has been linked to anxiety-related traits and is studied for its potential role in anxiety and mood disorders.
• ISL1: ISL1 (ISL LIM Homeobox 1): ISL1 is a transcription factor that regulates the development and differentiation of key tissues, including the heart, motor neurons, and sensory neurons. It plays an essential role in guiding these cells during embryonic growth and maintaining their function in adults. Mutations in ISL1 are linked to congenital heart defects and other developmental disorders.
• MAPT: MAPT (Microtubule Associated Protein Tau): MAPT is a gene that encodes the tau protein, which helps stabilize microtubules in neurons. Abnormal tau aggregation is associated with neurodegenerative diseases such as Alzheimer’s disease and frontotemporal dementia, making MAPT a key focus of research into neuronal health and disease mechanisms.
• POLM: POLM (DNA Polymerase Mu): POLM is a gene that encodes a DNA polymerase enzyme involved in DNA repair, particularly in the non-homologous end joining (NHEJ) pathway. It plays an important role in maintaining genomic stability and preventing mutations. Mutations in POLM may increase the risk of genomic instability and cancer.
• ARRB1: ARRB1 (Arrestin Beta 1) is a protein that plays a key role in regulating G protein-coupled receptor (GPCR) signaling. It is involved in the desensitization and internalization of activated GPCRs, helping to turn off downstream signals. ARRB1 is important for processes such as sensory perception, neurotransmission, and hormonal regulation.
• TAFA3: TAFA3 (TAFA Chemokine Like Family Member 3): TAFA3 is part of a family of proteins similar to chemokines, involved in immune responses and inflammation. While its specific role is not fully understood, TAFA3 is believed to help regulate immune cell activity and may contribute to neuroinflammatory processes.
• PRIMA1: PRIMA1 (Proline Rich Membrane Anchor 1):PRIMA1 is a gene that encodes a protein involved in anchoring acetylcholinesterase to neuronal membranes. This protein plays a key role in the breakdown of the neurotransmitter acetylcholine and is important for regulating cholinergic neurotransmission. It is also of interest in research on neurodegenerative diseases such as Alzheimer's.
• ADM: ADM (Adrenomedullin) is a peptide hormone involved in regulating the cardiovascular system and circulation. It helps control blood pressure through its vasodilatory effects and supports fluid balance. ADM also plays a role in modulating immune responses and may have protective functions in cardiovascular health.
• CCR2: CCR2 (C-C Motif Chemokine Receptor 2): CCR2 is a receptor that binds chemokines, including CCL8. It is mainly expressed on immune cells and plays a key role in directing their migration to sites of inflammation. CCR2 is important for the immune response against infections and has been extensively studied in the context of inflammatory diseases, cancer, and HIV infection.
• SLC24A2: SLC24A2 (Solute Carrier Family 24 Member 2) is a gene that encodes a potassium-dependent sodium/calcium exchanger, which helps maintain calcium balance within cells. It is primarily expressed in the retina and brain, indicating important roles in vision and neural function. Changes or malfunctions in SLC24A2 may affect neurological and visual health.
• EGLN2: EGLN2 (Egl-9 Family Hypoxia-Inducible Factor 2): EGLN2 is an enzyme that regulates the stability of hypoxia-inducible factors (HIFs), which are key proteins involved in the cellular response to low oxygen levels. EGLN2 plays a critical role in helping cells adapt to hypoxia and is significant in cancer biology, as HIFs are often elevated in tumors.
• MEGF9: MEGF9 (Multiple EGF-Like-Domains 9): MEGF9 is a protein involved in cell adhesion and signaling processes. It plays an important role in neural development, potentially influencing the formation and maintenance of the nervous system’s structure and function. Studying MEGF9 may offer valuable insights into developmental neural disorders and inform potential therapeutic strategies for these conditio
• LRTM1: LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is a gene involved in neural development and synaptic function. It plays a key role in neuronal communication and is potentially linked to neurodegenerative diseases, making it important for understanding brain health and neurological disorders.
• SEC31B: SEC31B (SEC31 Homolog B, COPII Coat Complex Component): SEC31B is a protein that is a key part of the COPII complex, which facilitates the transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. It is essential for proper protein secretion and the maintenance of organelle integrity. Mutations in SEC31B can impair protein transport and contribute to ER stress-related disor
• TRIM33: TRIM33 (Tripartite Motif Containing 33): TRIM33 is a protein that functions as an E3 ubiquitin ligase, involved in transcriptional regulation and DNA repair. It plays important roles in chromatin remodeling, stem cell differentiation, and the suppression of tumor development.
• RNF43: RNF43 (Ring Finger Protein 43): RNF43 is a gene that encodes an E3 ubiquitin ligase involved in negatively regulating the Wnt signaling pathway. This protein plays a key role in controlling cell proliferation and differentiation. Mutations in RNF43 are linked to several cancers, especially colorectal and endometrial cancers.
• PITX1: PITX1 (Paired Like Homeodomain 1): PITX1 is a transcription factor essential for the development of hindlimb structures and the pituitary gland. Mutations in PITX1 can cause developmental disorders such as Liebenberg syndrome, which is characterized by malformations of the upper limbs.
• RAB1A: RAB1A (RAB1A, Member RAS Oncogene Family): RAB1A is a gene that encodes a protein belonging to the RAB family of small GTPases, which regulate different aspects of vesicle trafficking. RAB1A specifically controls transport between the endoplasmic reticulum and the Golgi apparatus, playing a key role in maintaining efficient protein transport and processing within the cell.
• MYBPC3: MYBPC3: The MYBPC3 gene encodes cardiac myosin-binding protein C, a key regulator of heart muscle contraction. Variants in this gene are a frequent cause of hypertrophic cardiomyopathy, a major contributor to sudden cardiac death, particularly in young athletes. It plays a critical role in maintaining normal cardiac muscle structure and function.
• CNOT2: CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is a component of the CCR4-NOT complex, which plays a crucial role in regulating gene expression, including the turnover and degradation of mRNA. It is involved in various aspects of RNA metabolism and can affect cellular processes such as development, differentiation, and stress response.
• CRHR1: CRHR1 (Corticotropin-Releasing Hormone Receptor 1): CRHR1 is a receptor for corticotropin-releasing hormone, a key regulator of the body’s stress response. It plays a central role in the hypothalamic-pituitary-adrenal (HPA) axis, influencing stress regulation, mood, and behavior. Dysregulation of CRHR1 has been linked to psychiatric conditions such as depression and anxiety.
• KLRK1: KLRK1 (Killer Cell Lectin Like Receptor K1): KLRK1 is a gene that encodes an activating receptor present on natural killer (NK) cells and some T cells. It plays a key role in immune surveillance by recognizing stress-induced ligands on target cells, which triggers the elimination of infected or transformed cells. KLRK1 is essential for the body’s defense against viral infections and certain cancer
• TMPRSS6: TMPRSS6 (Transmembrane Serine Protease 6): TMPRSS6 is a protein that plays a key role in regulating iron metabolism, primarily through the control of hepcidin — the hormone that governs iron absorption. Mutations in TMPRSS6 can cause iron-refractory iron deficiency anemia (IRIDA), a form of anemia that does not improve with oral iron supplementation.
• BLMH: BLMH (Bleomycin Hydrolase): BLMH is an enzyme that plays a key role in metabolizing and detoxifying the chemotherapeutic drug bleomycin. Bleomycin works by causing DNA damage in cancer cells but can also lead to lung toxicity as a side effect. BLMH helps break down bleomycin into harmless compounds, reducing this risk. Understanding BLMH’s function is important for improving cancer treatment and m
• VMP1: VMP1 (Vacuole Membrane Protein 1) is a gene involved in autophagy, a key cellular process for breaking down and recycling cellular components. It plays a crucial role in the formation of autophagosomes, which help maintain cellular balance. Dysregulation of VMP1 can disrupt cell homeostasis and has been linked to conditions such as pancreatitis and certain cancers.
• KCTD15: KCTD15 (Potassium Channel Tetramerization Domain Containing 15): KCTD15 is a gene involved in neural development and the regulation of potassium channels. It plays a role in assembling potassium channel complexes, which are important for neuronal excitability. Dysregulation of KCTD15 may affect neural function.
• C11ORF21: C11ORF21 (Chromosome 11 Open Reading Frame 21) is a gene with currently unclear or uncharacterized biological function. While identified through genomic studies, its specific role in cellular activity and potential associations with health or disease remain under investigation as part of ongoing research in human genetics.
• GATA3: GATA3 (GATA Binding Protein 3) is a transcription factor that regulates the development and differentiation of multiple cell types, including T cells and mammary gland cells. It is vital for proper immune function and breast tissue formation. Mutations in GATA3 can contribute to immunodeficiency and breast cancer.
• KDSR: KDSR (3-Ketodihydrosphingosine Reductase): KDSR is an enzyme that plays a key role in sphingolipid metabolism. It converts 3-ketodihydrosphingosine into dihydrosphingosine, an essential precursor for ceramide and sphingolipid synthesis. These molecules are vital for maintaining cell membrane structure and supporting cell signaling processes.
• PTPRM: PTPRM (Protein Tyrosine Phosphatase Receptor Type M): PTPRM is a receptor-type protein tyrosine phosphatase involved in cell signaling and regulation of tyrosine phosphorylation. It contributes to processes such as cell adhesion, migration, and neuronal development. Dysregulation of PTPRM has been linked to cancer progression and certain neuronal disorders.
• BET1L: BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein-Like): BET1L is a protein that plays a key role in the vesicular transport system, specifically managing the trafficking between the endoplasmic reticulum and the Golgi apparatus. This process is essential for the proper secretion and processing of proteins, which supports important cellular functions such as cell signaling, metabolism, and
• IGLV4-60: IGLV4-60 (Immunoglobulin Lambda Variable 4-60): IGLV4-60 is a gene that represents a part of the immunoglobulin family involved in the adaptive immune response. It encodes a component of the variable region of lambda light chains in antibodies. This gene plays a key role in antigen recognition, with its diversity being essential for the immune system’s ability to respond to a wide range of pathoge
• PTPRC: PTPRC (Protein Tyrosine Phosphatase, Receptor Type C): PTPRC is a protein that reflects a key regulator of the immune system. Also known as CD45, it is a transmembrane protein tyrosine phosphatase essential for activating T and B lymphocytes. PTPRC plays a critical role in modulating signal transduction pathways, and its dysregulation can contribute to immune system disorders.
• GRIA1: GRIA1: GRIA1 is a gene that encodes a key subunit of AMPA receptors, which are essential for fast synaptic transmission in the brain. These receptors respond to glutamate, the primary excitatory neurotransmitter in the nervous system. The GRIA1 subunit plays a vital role in synaptic plasticity, which underlies learning and memory. Alterations or mutations in GRIA1 have been linked to neurological
• HGF: HGF (Hepatocyte Growth Factor): Hepatocyte Growth Factor (HGF) is a multifunctional growth factor that influences various cells by promoting cell growth, motility, and morphogenesis. It plays a key role in liver regeneration as a powerful mitogen for hepatocytes and is involved in wound healing and tissue repair. HGF’s ability to stimulate cell growth and migration also makes it important in cance
• ZFAT: ZFAT (Zinc Finger And AT-Hook Domain Containing): ZFAT is a transcription factor involved in regulating gene expression. It is believed to play important roles in immune function and cell survival. ZFAT has been linked to autoimmune diseases and is studied for its role in lymphocyte development and activity.
• FCHSD2: FCHSD2 (FCH And Double SH3 Domains 2): FCHSD2 is a protein involved in key cellular processes such as endocytosis and cytoskeletal organization. It plays an important role in vesicle transport and cell signaling, contributing to membrane dynamics. FCHSD2 has also been associated with certain cancers, making it significant for understanding cellular communication and disease mechanisms.
• SNX11: SNX11 (Sorting Nexin 11): SNX11 is a gene that encodes a protein involved in membrane trafficking and vesicle sorting within cells. It plays a key role in endosomal and lysosomal functions, supporting processes such as receptor recycling and degradation.
• KIT: KIT (also known as CD117 antigen):KIT is a gene that encodes a protein functioning as a receptor tyrosine kinase, essential for cell growth, differentiation, and survival. It plays a crucial role in the development and function of various cell types, including melanocytes, germ cells, and hematopoietic cells. Understanding KIT signaling pathways may offer insights into targeted treatments for canc
• ZFP64: ZFP64 (ZFP64 Zinc Finger Protein): ZFP64 is a zinc finger protein involved in gene regulation. Zinc finger proteins can bind to specific DNA sequences and influence gene expression. The specific targets and functions of ZFP64 in cellular processes are still under investigation.
• NR1H3: NR1H3: NR1H3 is a gene that encodes the liver X receptor alpha (LXRα), a nuclear receptor that regulates the expression of genes involved in cholesterol and lipid metabolism. It plays a key role in maintaining cholesterol balance and has been linked to the development of atherosclerosis and other metabolic disorders.
• CLDN11: CLDN11 (Claudin 11): CLDN11 is a protein that forms part of tight junctions — structures essential for maintaining barrier integrity in tissues. It plays a key role in the central nervous system and testes, contributing to myelin sheath formation and spermatogenesis. Mutations in CLDN11 may lead to neurological impairments and reproductive disorders.
• CARMIL1: CARMIL1 (Capping Protein Regulator and Myosin 1 Linker 1): CARMIL1 is a gene that encodes a protein involved in regulating actin dynamics, a key part of the cellular cytoskeleton. It plays an important role in cell movement, structure, and signaling. Changes or disruptions in CARMIL1 can impact cell motility and have been associated with immune system dysfunction and certain cancers.
• TBX2: TBX2 (T-Box Transcription Factor 2): TBX2 is a gene that encodes a transcription factor belonging to the T-box family. It plays a key role in embryonic development and tissue differentiation, particularly in heart formation and limb development.
• COMT: COMT (Catechol-O-Methyltransferase): COMT is an enzyme that plays a key role in the metabolism of catecholamines, including dopamine, epinephrine, and norepinephrine. It is important for regulating neurotransmitter levels in the brain and is linked to psychiatric disorders such as schizophrenia. COMT also contributes to the body’s pain response and has been studied in relation to pain sensitivity
• GPD2: GPD2 (Glycerol-3-Phosphate Dehydrogenase 2): GPD2 is an enzyme that plays a key role in glycerol metabolism and lipid biosynthesis. It catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, an essential step in lipid synthesis. This function is vital for maintaining energy storage and lipid balance in the body.
• KIAA1109: KIAA1109: KIAA1109 is a gene associated with a range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its exact function is not fully understood, it is thought to play a key role in immune regulation and the body’s inflammatory responses. Studying KIAA1109 is important for understanding the genetic basis of autoimmune disor
• PLEKHM1: PLEKHM1 (Pleckstrin Homology Domain-Containing Family M Member 1): PLEKHM1 is a protein involved in autophagy and lysosome function. It plays a key role in the fusion of autophagosomes with lysosomes, an important step in the autophagic process. Mutations in PLEKHM1 have been linked to osteopetrosis, a rare bone disorder.
• TSHR: TSHR (Thyroid-Stimulating Hormone Receptor): TSHR is a measure that reflects the function of the thyroid-stimulating hormone receptor encoded by the TSHR gene. This receptor, located on the surface of thyroid cells, plays a central role in regulating thyroid hormone production and release in response to pituitary signals. Dysregulation of TSHR can contribute to thyroid disorders.
• FARSA: FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is a protein involved in the translation process of protein synthesis, specifically responsible for attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations or dysregulation of FARSA can lead to errors in protein synthesis, potentially causing various cellula
• MOXD1: MOXD1 (Monooxygenase DBH-Like 1): MOXD1 is a gene involved in oxidative reactions within cells. While its precise functions and implications for human health are still being studied, MOXD1 is thought to play a role in the metabolism of certain compounds.
• ADGRL2: ADGRL2 (Adhesion G Protein-Coupled Receptor L2) is a protein that belongs to the adhesion-GPCR family, combining cell adhesion with G protein-coupled receptor signaling. It supports nervous system development, facilitates cell-to-cell communication, and has been linked to certain neurological conditions. Its dual function makes it an important focus in neurobiological research.
• SLC7A1: SLC7A1 (Solute Carrier Family 7 Member 1) is a gene that encodes a transporter protein responsible for the uptake of amino acids, especially arginine and lysine. These amino acids are vital for cell growth, nitric oxide production, and various metabolic processes. SLC7A1 also plays a role in immune regulation and has been linked to certain cancers, making it an important subject in biomedical rese
• TCF4: TCF4 (Transcription Factor 4): TCF4 is a transcription factor essential for nervous system development. It participates in neurodevelopmental processes and has been associated with psychiatric disorders such as schizophrenia. Through its role in gene regulation, TCF4 is critical for proper brain development and function.
• SHISA4: SHISA4 (Shisa Family Member 4) is a protein involved in regulating synaptic function and neuronal excitability. It modulates the activity of important receptors in the central nervous system, including AMPA and NMDA receptors, playing a key role in neuronal signaling and synaptic plasticity. Because of its role in synaptic modulation, SHISA4 is of interest in research on neurological disorders and
• XKR9: XKR9 (X-Kell Blood Group Precursor-Related Family Member 9) is a gene that belongs to the X-Kell blood group precursor-related family. While its precise functions remain unclear, ongoing research is investigating its potential roles in cell membrane dynamics and physiological processes.
• OOSP1: OOSP1 (Oocyte Secreted Protein 1): OOSP1 is primarily expressed in oocytes and plays a role in early embryonic development. It may contribute to the maturation of oocytes and regulate processes during fertilisation and early embryogenesis. Its function is essential for reproductive health and successful embryonic development.
• PTBP2: PTBP2 (Polypyrimidine Tract Binding Protein 2): PTBP2 is a gene that encodes an RNA-binding protein involved in RNA splicing and regulation of gene expression. It plays a key role in neuronal development and has been implicated in neurodevelopmental disorders.
• DPY19L3: DPY19L3 (Dpy-19 Like 3): DPY19L3 is a member of the DPY19 family, a group of proteins potentially involved in transmembrane transport or protein trafficking. While its exact functions and impact on human health are not yet fully understood, it may play important roles in cellular processes.
• RSU1: RSU1 (Ras Suppressor Protein 1): RSU1 is a protein that interacts with key signaling molecules, including Ras. It plays an important role in regulating cell adhesion and motility, contributing to various cell signaling pathways. RSU1 may also have implications in cancer progression and metastasis.
• UNCX: The UNCX (Unc-4 Homeobox) gene encodes a transcription factor containing a homeobox domain. It plays an essential role in neuronal development by helping specify neuronal identity and guiding axon connections in the developing nervous system.
• LEMD3: LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 is a gene that encodes a protein associated with the nuclear envelope, playing a role in nuclear structure and organization. Mutations in LEMD3 have been linked to Buschke-Ollendorff syndrome, a rare genetic disorder affecting bone and skin.
• DTWD2: DTWD2 (DTW Domain Containing 2) is a gene thought to be involved in the process of protein ubiquitination, which is essential for protein degradation and regulation within the cell. Although less well characterized, DTWD2 likely plays a role in maintaining cellular protein quality control and may influence key processes such as cell cycle regulation and stress response.
• POCD5: POCD5 (Postoperative Cognitive Dysfunction 5): POCD5 is a gene associated with postoperative cognitive dysfunction, a condition marked by cognitive decline following surgery. Research is ongoing to understand the specific mechanisms and factors that contribute to this condition.
• SPATA32: SPATA32 (Spermatogenesis Associated 32) is a gene mainly expressed in the testis and is thought to be involved in the process of spermatogenesis. While its precise role in male reproductive health and fertility is not yet fully understood, SPATA32 is considered important for research in reproductive biology and fertility.
• ATP2B4: ATP2B4 is a gene that encodes a calcium pump responsible for removing calcium ions from cells. This pump plays a vital role in maintaining intracellular calcium balance, which is essential for muscle contraction, cell signaling, and nerve function. Proper regulation of ATP2B4 is important for cardiovascular health, and its dysfunction has been linked to heart-related diseases.
• RWDD3: RWDD3 (RWD Domain Containing 3): RWDD3 is a protein whose function is not yet well understood. It is under investigation for its potential roles in cellular processes and its relevance to human health and disease.
• GNB3: GNB3: GNB3 is a gene that encodes a subunit of G proteins, which help transmit signals from outside the cell to the inside. A well-known variant (C825T) has been linked to traits such as hypertension and obesity, making GNB3 important in studying disease risk and individual responses to medications.
• SLC35F3: SLC35F3 (Solute Carrier Family 35 Member F3) is a gene that encodes a transporter protein from the solute carrier (SLC) family, which is involved in moving molecules across cell membranes. While its exact function and substrates are still under investigation, SLC35F3 is believed to play a role in cellular transport and metabolic processes.
• TRIM63: TRIM63 (Tripartite Motif Containing 63): TRIM63 is a protein that plays a key role in muscle protein degradation, particularly during muscle atrophy. Also known as MuRF1, it targets specific muscle proteins for ubiquitination and degradation in the proteasome. TRIM63 is important in conditions of muscle wasting, including cachexia, sarcopenia, and heart failure, and understanding its function may
• MYLK: MYLK (Myosin Light Chain Kinase): MYLK is a gene that encodes an enzyme essential for smooth muscle contraction. It phosphorylates myosin light chains, enabling actin-myosin interaction, and plays a key role in regulating vascular tone and blood pressure. MYLK also contributes to other smooth muscle functions, including gastrointestinal motility and airway resistance. Changes in MYLK function or e
• CSNK1G1: CSNK1G1 (Casein Kinase 1 Gamma 1) is a gene that encodes a protein from the casein kinase 1 family, involved in key cellular processes such as cell division, circadian rhythm regulation, and Wnt signaling. Through its role in Wnt signaling, CSNK1G1 may influence development and has potential relevance in cancer biology.
• KCND3: KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3): KCND3 encodes a voltage-gated potassium channel protein mainly found in the heart and brain. It helps regulate the electrical activity of cardiac and neuronal cells, and mutations in KCND3 have been linked to certain heart rhythm abnormalities and neurodevelopmental disorders.
• DCDC2C: DCDC2C (Doublecortin Domain-Containing Protein 2C) is a gene that encodes a protein from the doublecortin (DCX) family, known for its role in brain development. It is involved in processes such as neuronal migration and axon guidance. While the specific function of DCDC2C is still being studied, it may be linked to neurodevelopmental processes and disorders.
• TTN: TTN (Titin): TTN is one of the largest proteins in the human body, primarily found in muscle tissues. It plays a key role in muscle contraction and elasticity. TTN functions like a molecular spring, providing structural support to muscle fibers and enabling them to contract and relax efficiently. Mutations in the TTN gene have been linked to several muscle-related disorders, including muscular dys
• LBP: LBP (Lipopolysaccharide-Binding Protein): LBP is a protein that plays a key role in the immune response to bacterial infections. It binds to bacterial lipopolysaccharides (LPS) and helps trigger the innate immune system. LBP is an important component of the body’s defense against bacterial pathogens.
• FOXP2: FOXP2 (Forkhead Box P2) is a gene that encodes a transcription factor essential for speech and language development. It plays a key role in neural circuits related to communication. Mutations in FOXP2 have been linked to speech and language impairments, making it a critical gene in the study of human language and its evolution.
• SPP1: SPP1 (Secreted Phosphoprotein 1): is a gene that encodes osteopontin, a protein involved in bone remodeling, immune regulation, and tissue repair. It contributes to inflammatory processes and has been linked to conditions such as autoimmune disorders and cancer.
• NOTCH4: NOTCH4 (Notch Receptor 4): NOTCH4 is a member of the Notch receptor family, which plays a key role in cell-to-cell communication and regulation of cell fate during development. It is particularly important for vascular development and immune function. Disruptions in NOTCH4 signaling have been associated with developmental disorders, various diseases, and certain cancers.
• SPATS2L: SPATS2L (Spermatogenesis Associated Serine Rich 2-Like): SPATS2L is a gene linked to spermatogenesis, the process of sperm cell development. It may have an important role in male fertility, though further research is needed to fully understand its function and significance.
• ANAPC4: ANAPC4 (Anaphase Promoting Complex Subunit 4) is a protein that forms part of the anaphase-promoting complex/cyclosome (APC/C), a crucial regulator of the cell cycle. It helps tag specific proteins for degradation, thereby controlling the timely progression of cells through different stages of division. Proper function of ANAPC4 is essential for normal cell cycle regulation, and its dysregulation
• PRDM16: PRDM16 (PR Domain Containing 16): PRDM16 is a transcription factor that plays a key role in regulating the differentiation of brown adipocytes and activating thermogenesis. It is essential for controlling energy expenditure and metabolic health. As a central player in managing the body’s energy balance, PRDM16 holds significant potential in advancing our understanding of metabolism and addressing
• MAP4K5: MAP4K5 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5): MAP4K5 is a gene that encodes a protein involved in the MAP kinase signaling cascade, transmitting signals from the cell surface to the nucleus. It influences cellular responses such as inflammation, stress reactions, and immune regulation, and may play a role in autoimmune disease processes.
• TDRD15: TDRD15 (Tudor Domain Containing 15): TDRD15 is a protein that contains a Tudor domain, which is known for interacting with methylated proteins and nucleic acids. While its specific functions and roles in cellular processes are still being investigated, TDRD15 is believed to be important in these molecular interactions.
• ARSA: ARSA (Arylsulfatase A) is an enzyme that breaks down sulfatides — complex lipids present in many tissues, particularly in the nervous system. A deficiency in ARSA, often caused by genetic mutations, leads to the buildup of sulfatides and can result in Metachromatic Leukodystrophy (MLD), a rare disorder marked by progressive loss of nerve insulation (demyelination) and severe neurological decline.
• DES: DES (Desmin) is a gene that encodes an intermediate filament protein essential for the structural stability of muscle cells. It helps maintain the integrity and function of skeletal and cardiac muscle tissue. Mutations in DES are linked to muscle disorders, including myopathies and cardiomyopathies, highlighting its key role in muscle health.
• ESR2: ESR2 (Estrogen Receptor 2): ESR2 is a gene that encodes one of the two main estrogen receptors in the body. It mediates the effects of estrogen, a key hormone involved in reproductive functions as well as bone, cardiovascular, and neural health. ESR2 plays important roles in various physiological processes and is a target in hormone replacement therapies and certain cancer treatments.
• IKZF1: IKZF1 (IKAROS Family Zinc Finger 1): IKZF1 is a gene that encodes a zinc finger transcription factor essential for immune cell development and differentiation, particularly in B cells. Mutations in IKZF1 are common in B-cell acute lymphoblastic leukemia (B-ALL), underscoring its key role in hematopoiesis and immune regulation. Its interactions with other genes and its role in maintaining immune ba
• SBF2: SBF2 (SET Binding Factor 2): SBF2 is a protein involved in nerve development and function. It plays a key role in maintaining the structure and health of peripheral nerves. Mutations in SBF2 have been linked to Charcot-Marie-Tooth disease, a hereditary neurological disorder that can cause nerve degeneration, muscle weakness, and sensory loss.
• NLGN1: NLGN1 (Neuroligin 1): NLGN1 is a measure that reflects the presence and function of a key protein in the nervous system — Neuroligin 1, encoded by the NLGN1 gene. It plays a vital role in the formation and modulation of synapses, supporting synaptic specialization, strength, and plasticity. NLGN1 is critical for learning, memory, and overall brain function, and has been a focus in research on auti
• ALDH7A1: ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1): ALDH7A1 is an enzyme involved in the metabolism of aldehydes and is essential for the detoxification of pyridoxal-5'-phosphate, a form of vitamin B6. Proper function of ALDH7A1 is critical for normal lysine metabolism, and deficiency in this enzyme can lead to pyridoxine-dependent epilepsy, a condition in which seizures are responsive to vitamin
• CD101: CD101 (CD101 Molecule): CD101 is a cell surface glycoprotein involved in immune regulation. It plays a role in both activation and suppression of immune cells, especially in autoimmune diseases and immune responses. Its expression on T cells and other immune cells is important for modulating the immune system’s activity.
• FBXO24: FBXO24 (F-Box Protein 24): FBXO24 is a gene that encodes a protein belonging to the F-box family, which is involved in protein degradation through the ubiquitin-proteasome system. It plays a role in cell cycle regulation and protein turnover, although its specific physiological functions and links to diseases are still being investigated.
• ACTN3: ACTN3 is a gene that encodes the protein Alpha-actinin-3, which is predominantly found in fast-twitch muscle fibers. These fibers are essential for producing rapid and powerful muscle contractions, key to explosive athletic performance. Variations in the ACTN3 gene, especially the R577X polymorphism, are associated with differences in sprinting ability and endurance, making this gene important in
• AP3B2: AP3B2 (Adaptor-Related Protein Complex 3 Subunit Beta 2): AP3B2 is a subunit of the Adaptor-Related Protein Complex 3 (AP-3), which is involved in intracellular vesicle trafficking. It plays a key role in sorting cargo proteins to lysosomes and related organelles. Mutations in AP3B2 are associated with Hermansky-Pudlak syndrome, a disorder characterized by defects in pigmentation and platelet func
• SLC2A9: SLC2A9 (Solute Carrier Family 2 Member 9) is a gene that encodes a transporter protein responsible for moving urate in the kidneys. This protein plays a key role in regulating uric acid levels in the blood and is linked to the risk of developing gout.
• HBZ: HBZ (Hemoglobin Subunit Zeta): HBZ is a component of embryonic and fetal hemoglobin, playing a key role in oxygen transport during early development. Changes in HBZ expression are linked to certain hemoglobinopathies and thalassemias.
• PKP4: PKP4 (Plakophilin 4): PKP4 is a protein that supports cell–cell adhesion, particularly within desmosomes — specialized structures that link neighboring cells. It helps maintain tissue integrity, especially in areas exposed to mechanical stress. Mutations in PKP4 can disrupt this function, contributing to certain skin and cardiac disorders.
• EXOC5: EXOC5 (Exocyst Complex Component 5): EXOC5 is a gene that encodes a protein component of the exocyst, a complex involved in vesicle trafficking. It plays a key role in directing vesicles to specific sites on the plasma membrane, supporting processes such as cellular communication, secretion, and membrane growth.
• NTM: NTM (Neurotrimin): NTM is a neural cell adhesion molecule involved in the formation of neural networks. It plays a key role in neural development, particularly in neurite outgrowth and synaptic plasticity. Research into NTM helps to better understand neural development mechanisms and its potential links to neurodevelopmental disorders.
• IGF2: IGF2 (Insulin-Like Growth Factor 2) is a protein that plays a key role in growth and development, especially during fetal stages. It is part of the insulin-like growth factor system, which influences cell growth, proliferation, and survival. IGF2 also supports muscle growth and differentiation, and its activity has been linked to certain cancers due to its role in promoting cell proliferation.
• UBE3A: UBE3A (Ubiquitin Protein Ligase E3A): UBE3A is a gene that encodes an E3 ubiquitin ligase enzyme, which helps regulate protein degradation through the ubiquitin–proteasome pathway. It plays an important role in normal brain development and function. Mutations in UBE3A are linked to Angelman syndrome, a neurodevelopmental disorder marked by intellectual disability, developmental delay, and characte
• PKD2L2: PKD2L2 is a gene that encodes a protein belonging to the polycystin family, associated with calcium channel activity and cellular signaling. While its exact role in kidney function or disease is not fully understood, PKD2L2 may influence calcium homeostasis and broader cellular signaling processes.
• PRKAG2: PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in cellular energy regulation. It plays a role in sensing cellular energy status and activating pathways that help restore energy balance.
• PLCG2: PLCG2 (Phospholipase C Gamma 2): PLCG2 is a gene that plays a crucial role in intracellular signaling pathways, especially in immune cells. It is involved in the hydrolysis of phosphatidylinositol 4,5-bisphosphate, an important step in activating the protein kinase C pathway. Mutations in PLCG2 have been linked to immune-related disorders and are studied in relation to autoinflammatory diseases.
• ADRA2A: ADRA2A (Alpha-2 Adrenergic Receptor 2A): ADRA2A is a G protein-coupled receptor that responds to the neurotransmitter norepinephrine. It plays a key role in regulating blood pressure, controlling vasoconstriction, and mediating the body’s fight-or-flight response.
• OPTC: OPTC (Opticin): Opticin is a glycoprotein located primarily in the vitreous humor of the eye. It plays an important role in maintaining the structural integrity of the vitreous body and may be involved in ocular development as well as certain eye diseases.
• EXD3: EXD3: EXD3 (Exonuclease 3'-5' Domain Containing 3) is a gene that plays an important role in cellular processes, although it is less widely studied compared to other genes. The protein encoded by EXD3 is believed to be involved in RNA processing and the regulation of gene expression. While its full range of functions is still being explored, EXD3 is thought to be essential for maintaining RNA stab

How to prepare

24 hours before: Avoid alcohol, caffeine, nicotine, and intense exercise. 30 minutes before: Don’t brush teeth, drink, eat, smoke or chew gum.

Frequently asked questions

How does it work? / When do I get my results?

1. Order and receive your kit. 2. Perform the test. 3. Send a sample at the beginning of the week (to avoid delays). 4. Results digitally in 3-5 weeks.

How does the DNA Fatigue Test work?

The DNA Fatigue Test is a laboratory-grade analysis of your genetic code. It looks for specific variations (SNPs) in 240 genes that are scientifically linked to energy production, oxygen transport, nutrient metabolism, and neurological health. This provides a map of your biological predispositions rather than a current snapshot of levels like a traditional blood test.

Who should take the DNA Fatigue Test?

This test is ideal for individuals experiencing chronic tiredness, unexplained brain fog, or slow recovery after physical activity. It is also highly beneficial for those who have had normal clinical results but still feel their energy levels are not optimal and want to explore genetic underlying causes.

Can I receive the raw data from my test?

No. We provide your results in a comprehensive report with the relevant values and interpretations. We do not provide the raw laboratory data.

Customer reviews

4.6/5 (10)

• 4/5 — I finally understand why my iron levels are always an issue despite my diet. The 8-week wait for results was a bit long, but the data is solid.
• 5/5 — Finally found out I have a genetic predisposition for poor iron absorption. It explains so much about my constant exhaustion!
• 5/5 — The saliva collection was simple, and the report gave me real answers about my slow recovery times after the gym.
• 4/5 — Super easy to use and it arrived quickly.
• 5/5 — The kit was easy to use and the instructions were very clear.
• 5/5 — Very happy with this test.
• 4/5 — Took a while to get the results back, but the breakdown of my COMT and ADRB2 genes was very educational for managing my brain fog.
• 4/5 — It confirmed some things I suspected about my sleep and fatigue. Shipping was fast.