DNA Metabolic Health Test

About this test

Key Benefits

Gain insight into how genetic variation may influence metabolism and energy balance
Simple At-Home Testing: Collect your sample easily using a saliva test
Comprehensive Metabolic Insights: Covers blood sugar, weight, and hormone-related pathways
Personalized Insights: Understand how your body may respond to metabolic factors
Supports Informed Decisions: Helps guide nutrition and lifestyle choices

What This Test Measures

This test analyzes genetic markers related to key aspects of metabolic health, including:

Glucose metabolism
Markers associated with how the body may regulate blood sugar and insulin response

Weight and fat metabolism
Genetic factors influencing how the body may store and utilize fat and energy

Thyroid function
Markers linked to how the body may regulate metabolic rate and hormone activity

Hormonal balance
Genetic variations associated with broader endocrine and metabolic regulation

Energy utilization
Insights into how the body may convert nutrients into usable energy

By analyzing these areas, the test provides a broader understanding of how your genetic profile may relate to metabolic function.

About Metabolic Health and Genetics

Metabolic health is influenced by multiple biological systems, including glucose regulation, fat metabolism, and hormonal balance. Genetic variation may affect how these systems function and interact.

Understanding these genetic factors may support a more individualized perspective on metabolism, helping you identify patterns related to energy balance, weight regulation, and overall metabolic function.

How It Works

1. Order Your Kit
   Purchase your test online

2. Collect Your Sample
   Provide a saliva sample at home using the collection kit

3. Send It Back
   Mail your sample to the laboratory using the prepaid return envelope

4. Receive Your Results
   Access your detailed digital results within 3–5 weeks

About the Result Reports

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

Each report is designed to be clear and easy to understand, including your genetic results along with explanations and personalized insights.

You will also have access to an example report, allowing you to preview the structure and content in advance.

If you need help interpreting your results, our support team is available to assist you.

Please note: Reports are available in English only.

Biomarkers included

• ARPC1B: ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B) is a gene that encodes a component of the ARP2/3 complex, a key regulator of actin cytoskeleton organization and cell movement. It is essential for proper immune cell function and the body’s defense against infections. Mutations in ARPC1B can cause a rare immunodeficiency disorder, known as ARPC1B deficiency, which impairs immune response.
• CDKN1C: CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C): CDKN1C is a gene that encodes the cyclin-dependent kinase inhibitor p57^Kip2, which regulates the cell cycle by inhibiting cyclin-CDK complexes. It plays a critical role in controlling cell growth and development. Mutations in CDKN1C are associated with overgrowth disorders such as Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
• SETD7: SETD7 (SET Domain Containing 7, Lysine Methyltransferase): SETD7 is a gene involved in epigenetic regulation, encoding an enzyme that methylates histone proteins. This modification plays a key role in controlling gene expression. Dysregulation of SETD7 activity has been linked to various diseases, including cancer and cardiovascular disorders.
• ADH1B: ADH1B (Alcohol Dehydrogenase 1B): ADH1B is a gene that encodes an enzyme involved in the first step of alcohol metabolism, converting ethanol into acetaldehyde. Genetic variations in ADH1B can influence the rate of alcohol metabolism, affecting alcohol tolerance and the risk of alcohol-related diseases.
• GNPDA2: GNPDA2 (Glucosamine-6-Phosphate Deaminase 2): GNPDA2 is a gene involved in glucose metabolism and glycemic control. It plays a role in converting glucosamine-6-phosphate to fructose-6-phosphate, a key step in glucose utilization. Variations in GNPDA2 have been linked to type 2 diabetes risk and the regulation of glucose homeostasis.
• LEP: LEP (Leptin): LEP is a gene that encodes the hormone leptin, which is produced by adipose tissue and plays a key role in regulating energy balance and appetite. Leptin acts on the hypothalamus in the brain to suppress appetite and promote energy expenditure. Dysregulation of leptin or its receptor can lead to obesity and metabolic disorders, as it is essential for maintaining body weight and fat s
• DGKB: DGKB (Diacylglycerol Kinase Beta) is an enzyme that plays a key role in lipid signaling by converting diacylglycerol into phosphatidic acid. It is involved in important cellular processes such as insulin sensitivity and neurotransmitter signaling. Changes in DGKB function have been linked to metabolic disorders and are studied in relation to conditions like diabetes and obesity.
• ZBTB26: ZBTB26 (Zinc Finger And BTB Domain Containing 26): ZBTB26 is a gene that encodes a transcription factor featuring zinc finger and BTB (Broad-Complex, Tramtrack, Bric-a-Brac) domains. This protein is involved in regulating gene expression and may play important roles in development and immune system function. Further research is needed to fully clarify its functions and significance.
• TUB: TUB (Tubby Bipartite Transcription Factor): TUB is a gene that encodes the Tubby bipartite transcription factor, which plays a key role in regulating appetite and body weight. Mutations in TUB have been associated with obesity and retinal degeneration. This gene is particularly important for understanding metabolic disorders and eye diseases, offering insights into the genetic factors underlying o
• RGS17: RGS17 (Regulator Of G Protein Signaling 17): RGS17 is a gene that encodes a protein from the regulator of G protein signaling (RGS) family. These proteins help control G protein-coupled receptor (GPCR) signaling by speeding up the conversion of GTP to GDP. RGS17 may influence multiple GPCR-regulated pathways, impacting a variety of physiological processes.
• CCND3: CCND3 (Cyclin D3): CCND3 is a protein that plays a key role in regulating the cell cycle, particularly in the transition from the G1 phase to the S phase. Like CCND2, it is essential for proper cell division. Dysfunctions or abnormalities in CCND3 have been linked to various cancers, especially lymphomas and leukemias.
• ZCCHC14: ZCCHC14 (Zinc Finger, CCHC Domain Containing 14): ZCCHC14 is a gene that encodes a protein featuring zinc finger and CCHC domains. These domains suggest a role in nucleic acid binding and regulation. While the specific functions of ZCCHC14 are still under investigation, ongoing research aims to clarify its role in cellular processes.
• GLIS3: GLIS3 (GLIS Family Zinc Finger 3): GLIS3 is a transcription factor involved in regulating gene expression across various biological processes, including thyroid hormone signaling and pancreatic beta-cell development. Mutations in GLIS3 have been associated with disorders such as congenital hypothyroidism and neonatal diabetes, highlighting its key role in endocrine function and development.
• CD40: CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in the immune system. It is primarily expressed on B cells and antigen-presenting cells. Activation of CD40 is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can lead to immunodeficiency disorders.
• TAP2: TAP2 (Transporter 2, ATP Binding Cassette Subfamily B Member): TAP2 is a gene that helps regulate antigen presentation in the immune system. It transports peptides into the endoplasmic reticulum, where they are loaded onto major histocompatibility complex (MHC) molecules. This process is essential for adaptive immune responses.
• CADM1: CADM1 (Cell Adhesion Molecule 1): CADM1 is a protein-coding gene that plays a key role in cell adhesion, a process essential for cellular communication and development. It is especially important in the nervous system and immune response. Mutations in CADM1 have been linked to several cancers and neurological disorders, underscoring its significance in both normal physiology and disease.
• AAK1: AAK1 (AP2-Associated Kinase 1) is a gene that encodes a protein kinase involved in clathrin-mediated endocytosis — a key process cells use to internalize molecules from their surroundings. AAK1 helps regulate the internalization and trafficking of cell surface receptors, supporting essential cellular functions such as signaling and membrane recycling.
• URAD: URAD (Ureidoimidazole-4-Carboxamide Ribonucleotide Decarboxylase): URAD is a gene that encodes an enzyme involved in the de novo synthesis of purine nucleotides, essential for DNA and RNA production. It plays a key role in nucleotide metabolism and is important for cell proliferation and growth.
• TPO: TPO (Thyroid Peroxidase) is a gene that encodes an enzyme essential for thyroid hormone synthesis. This enzyme catalyzes the iodination and coupling of hormone precursors, leading to the production of thyroid hormones (T3 and T4). Dysregulation of TPO can contribute to thyroid disorders.
• FAM227B: FAM227B (Family with Sequence Similarity 227 Member B): FAM227B is a gene with currently limited information about its function. Further research is needed to clarify its specific role and importance in cellular processes and human health.
• BHLHE40: BHLHE40 (Basic Helix-Loop-Helix Family Member E40): BHLHE40 is a gene that encodes a transcription factor involved in regulating the circadian rhythm. It plays a key role in controlling the sleep-wake cycle and the expression of circadian clock genes. Dysregulation of BHLHE40 can affect circadian rhythms and sleep patterns.
• BDNF: BDNF (Brain-Derived Neurotrophic Factor) is a gene that encodes a protein essential for the survival, growth, and maintenance of neurons in the brain. BDNF plays a vital role in synaptic plasticity, learning, and memory. Changes in BDNF levels have been associated with a range of neurological and psychiatric conditions.
• 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.
• CLEC12A: CLEC12A (C-Type Lectin Domain Family 12 Member A): CLEC12A encodes a protein that belongs to the C-type lectin-like receptor family. It plays an important role in the immune system by participating in cell signaling pathways that regulate immune responses, especially in myeloid cells. CLEC12A has been studied extensively for its involvement in inflammation and leukemia.
• SH3YL1: SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein with SH3 and SYLF domains, indicating a role in protein-protein interactions. While its precise functions remain under study, SH3YL1 is thought to be involved in cellular signaling pathways and the regulation of membrane dynamics.
• CCDC179: CCDC179 (Coiled-Coil Domain Containing 179): CCDC179 is a gene that encodes a protein featuring a coiled-coil domain. Proteins with this domain typically play key roles in structural organization and protein interactions. Although the specific functions of CCDC179 are not well-defined, genes like this are often involved in important cellular processes such as vesicle transport, chromosome segregat
• ACAN: ACAN (Aggrecan) is a gene that encodes aggrecan, a key proteoglycan found in the extracellular matrix of cartilage and other connective tissues. Aggrecan is essential for maintaining cartilage structure and ensuring proper joint function. Mutations in ACAN can disrupt bone and cartilage development, leading to skeletal disorders such as spondyloepimetaphyseal dysplasia.
• ATP8B1: ATP8B1 (ATPase Phospholipid Transporting 8B1) is a gene that encodes a phospholipid transporter found in the liver cell membrane. It helps maintain the lipid balance of cell membranes and bile. Mutations in ATP8B1 can lead to progressive familial intrahepatic cholestasis (PFIC), a group of inherited liver disorders.
• ALOX5AP: ALOX5AP (Arachidonate 5-Lipoxygenase-Activating Protein): ALOX5AP is a gene that encodes a protein involved in activating the enzyme arachidonate 5-lipoxygenase (ALOX5). This enzyme plays a key role in metabolizing arachidonic acid and producing leukotrienes, which are important inflammatory mediators. Variations in ALOX5AP have been linked to cardiovascular diseases and asthma.
• HMGCS2: HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 encodes an enzyme involved in the synthesis of ketone bodies, which serve as alternative energy sources produced during fasting or periods of low carbohydrate intake. It plays a role in energy metabolism and is primarily expressed in the liver.
• ABCG2: ABCG2 (ATP-Binding Cassette Subfamily G Member 2) is a protein that functions as a cellular transporter, moving various molecules — including drugs, toxins, and metabolites — out of cells. As a member of the ATP-binding cassette (ABC) transporter family, it plays a key role in protecting tissues from harmful substances and contributes to drug resistance.
• 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.
• SYT13: SYT13 (Synaptotagmin 13): SYT13 is a member of the synaptotagmin gene family, which plays a role in synaptic vesicle trafficking and neurotransmitter release in neurons. It contributes to the regulation of synaptic transmission and supports effective neuronal communication.
• HMX3: HMX3 (H6 Family Homeobox 3): HMX3 is a homeobox gene that encodes a transcription factor involved in early embryonic development. It plays a critical role in the formation of the nervous system, particularly in the development of specific brain regions and sensory organs like the inner ear.
• LONP2: LONP2 (Lon Peptidase 2, Mitochondrial): LONP2 is a protein that reflects mitochondrial quality control in the cell. It encodes a mitochondrial protease responsible for degrading damaged or misfolded mitochondrial proteins. Proper LONP2 function is essential for maintaining mitochondrial health, and impairments can contribute to mitochondrial disorders and aging-related diseases.
• Tex26: Tex26 (Testis Expressed 26): Tex26 is a gene primarily expressed in the testis and is thought to be involved in testicular function and development. While its specific functions are not yet fully understood, Tex26 is considered important in reproductive biology and may have relevance in fertility-related research.
• PARD3B: PARD3B (Par-3 Family Cell Polarity Regulator Beta): PARD3B is a protein involved in establishing cell polarity and forming tight junctions in epithelial cells. It plays a key role in tissue organization and maintaining barrier function. Mutations in PARD3B can result in developmental disorders that impact tissue structure and integrity.
• THADA: THADA (Thyroid Adenoma Associated): THADA is a gene associated with thyroid adenomas, a type of thyroid tumor. It may play a role in thyroid tumorigenesis and has been implicated in thyroid cancer development, making it a focus of ongoing research in thyroid diseases.
• ASPRV1: ASPRV1 (Aspartic Peptidase, Retroviral-Like 1): ASPRV1 is a gene that encodes an aspartic peptidase enzyme. Its specific function is still being investigated, but it may be involved in proteolytic processes within cells. Ongoing research aims to better understand its roles and potential implications.
• HAPLN1: HAPLN1 (Hyaluronan And Proteoglycan Link Protein 1): HAPLN1 is a protein involved in the binding of hyaluronic acid and proteoglycans in the extracellular matrix. It plays an important role in maintaining tissue integrity and is associated with the function of cartilage and connective tissues.
• MLXIPL: MLXIPL (MLX-Interacting Protein-Like): MLXIPL is a gene that encodes a protein involved in glucose metabolism and regulation of gene expression. It plays a role in maintaining glucose homeostasis and lipid metabolism. Mutations in MLXIPL may influence carbohydrate metabolism and contribute to related disorders.
• PEAK1: PEAK1 (Pseudopodium-Enriched Atypical Kinase 1): PEAK1 is a gene involved in cell signaling and cytoskeletal dynamics. It plays an important role in cell migration, adhesion, and invasion. Dysregulation of PEAK1 has been linked to cancer progression and metastasis, as it promotes tumor cell mobility and invasion into surrounding tissues.
• PNPLA3: PNPLA3 (Patatin-Like Phospholipase Domain Containing 3): PNPLA3 is a gene that encodes an enzyme known as adiponutrin or patatin-like phospholipase domain-containing protein 3. This enzyme plays a key role in lipid metabolism by hydrolyzing triglycerides in adipocytes. Variations in the PNPLA3 gene are linked to liver conditions, including non-alcoholic fatty liver disease (NAFLD).
• CCK: CCK (Cholecystokinin): CCK is a gene that encodes a peptide hormone involved in digestion and appetite control. Cholecystokinin stimulates the release of digestive enzymes and triggers gallbladder contraction. It also functions as a satiety signal in the brain, helping regulate food intake.
• PEX11A: PEX11A (Peroxisomal Biogenesis Factor 11 Alpha): PEX11A is a protein involved in the formation and regulation of peroxisomes — cell organelles that play key roles in lipid metabolism and detoxification. PEX11A is essential for peroxisome proliferation and proper cellular function.
• LDLRAD3: LDLRAD3 (Low Density Lipoprotein Receptor Class A Domain Containing 3): LDLRAD3 is a gene that encodes a protein thought to be involved in lipid metabolism and transport. It shares similarities with low-density lipoprotein receptors, suggesting a role in maintaining cholesterol balance. Its precise function, however, is still not fully understood.
• LRRC6: LRRC6 (Leucine-Rich Repeat-Containing Protein 6): LRRC6 is a gene that encodes a protein involved in the structure of cilia within cells. Cilia play a key role in cellular movement and signaling. Mutations in LRRC6 can cause ciliopathies, a group of genetic disorders marked by ciliary dysfunction and a range of clinical symptoms.
• Ric3: Ric3 (Resistance To Inhibitors Of Cholinesterase 3 Homolog): Ric3 is a protein involved in the maturation and trafficking of nicotinic acetylcholine receptors, which are essential for neuronal signaling. Ric3 plays a key role in the development and maintenance of the nervous system, and alterations in its function can have implications for neurological diseases.
• LINGO2: LINGO2 (Leucine-Rich Repeat And Ig Domain-Containing 2): LINGO2 is a gene involved in neuronal development and function. It is believed to play a role in axon growth and myelination. Dysregulation of LINGO2 has been linked to neurological disorders such as Parkinson’s disease and essential tremor.
• TMEM171: TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. While its specific functions are not yet fully understood, transmembrane proteins generally play important roles in cell signaling, transport of molecules across membranes, and cellular communication. Further research is needed to clarify the precise roles of TMEM171 in cellular processes.
• TP53: TP53 (Tumor Protein P53): TP53 is a gene that encodes the p53 protein, a key tumor suppressor involved in preventing cancer development. The p53 protein plays a central role in regulating cell cycle arrest, DNA repair, and apoptosis in response to DNA damage. Mutations in TP53 are linked to many types of cancer, highlighting its importance in cancer research and treatment.
• INHBC: INHBC (Inhibin Beta C Subunit) is a member of the activin-inhibin family, which plays key roles in regulating reproduction, cell growth, and differentiation. It is involved in controlling the levels of follicle-stimulating hormone (FSH). Dysregulation of INHBC can impact reproductive health and may be linked to certain cancers.
• PIP5KL1: PIP5KL1 (Phosphatidylinositol-4-Phosphate 5-Kinase-Like 1): PIP5KL1 is a gene that encodes an enzyme involved in phosphoinositide metabolism. This enzyme catalyzes the conversion of phosphatidylinositol 4-phosphate (PI4P) to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), a critical signaling molecule that regulates cellular processes such as membrane trafficking and cytoskeletal organization.
• TLN2: TLN2 (Talin 2): TLN2 is a gene that encodes the talin 2 protein, which is involved in integrin-mediated signaling and plays a key role in cell adhesion, migration, and signaling. It contributes to the formation and stabilization of integrin-based adhesions and may influence important cellular processes, including immune responses and cancer progression.
• ANKH: ANKH (Ankylosis Homolog): ANKH is a gene associated with familial chondrocalcinosis, a genetic disorder that causes calcium crystal deposits in the joints, leading to painful arthritis. ANKH encodes a protein that helps regulate extracellular inorganic pyrophosphate levels, which play an important role in joint health and the mineralization of cartilage and bone tissues.
• ADAM15: ADAM15 (A Disintegrin and Metalloproteinase 15) is a member of the ADAM protein family, which are involved in cell adhesion, migration, and the proteolysis of extracellular matrix proteins. ADAM15 plays important roles in cell signaling and tissue remodeling processes.
• 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.
• SFTPA1: SFTPA1 (Surfactant Protein A1) is a gene that encodes a protein essential for lung function. This protein plays a key role in the innate immune defense of the respiratory tract and helps reduce surface tension in the lungs, supporting breathing efficiency.
• GYPC: GYPC (Glycophorin C): GYPC is a gene that encodes glycophorin C, a protein located on the surface of red blood cells. This protein is an important part of the blood group antigen system and plays a key role in determining blood type compatibility for transfusions. Understanding GYPC variants is essential in blood transfusion medicine.
• SORCS1: SORCS1 (Sortilin-Related VPS10 Domain Containing Receptor 1): SORCS1 is a gene that encodes a receptor involved in protein trafficking and sorting within cells. This receptor plays an important role in regulating receptor signaling and is linked to neural development and synaptic function.
• RAB28: RAB28 (Ras-Related Protein Rab-28): RAB28 is a member of the RAB family of small GTPases, proteins involved in regulating intracellular vesicle trafficking. RAB28 contributes to vesicle transport and membrane dynamics within the cell.
• ADCY3: ADCY3 (Adenylate Cyclase 3) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a crucial signaling molecule. ADCY3 plays an important role in regulating cellular processes such as neurotransmission and hormone signaling. It is also implicated in neuropsychiatric disorders and metabolic regulation.
• TYK2: TYK2 (Tyrosine Kinase 2): TYK2 is a gene that encodes a tyrosine kinase enzyme involved in signaling pathways activated by various cytokines, including interferons and interleukins. It plays an important role in regulating immune responses and controlling inflammation.
• GHRL: GHRL (Ghrelin): GHRL is a gene that encodes ghrelin, a peptide hormone often referred to as the “hunger hormone.” Ghrelin acts on the hypothalamus to stimulate appetite and increase food intake. It plays a key role in initiating meals and regulating body weight.
• NPC1: NPC1 (Niemann-Pick Disease, Type C1): NPC1 is a gene that plays a critical role in cholesterol trafficking within cells. Mutations in NPC1 lead to Niemann-Pick disease type C, a rare genetic disorder marked by the buildup of cholesterol and other lipids in cells, resulting in neurodegeneration and liver dysfunction.
• HPRT1: HPRT1 (Hypoxanthine Phosphoribosyltransferase 1): HPRT1 is an essential gene involved in purine metabolism. It catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP), a key precursor for purine nucleotide synthesis. Mutations in HPRT1 can result in Lesch-Nyhan syndrome, a rare genetic disorder associated with neurological and behavioral abnormalities.
• KEL: KEL (Kell Blood Group): KEL is a gene associated with blood group antigens and plays a key role in blood transfusion compatibility. It influences antigenic markers on the surface of red blood cells, affecting transfusion reactions and compatibility testing.
• DLG5: DLG5 (Discs Large Homolog 5) is a protein that belongs to the Discs Large (DLG) family, involved in organizing cellular structures and facilitating signal transmission at cell junctions. It plays an important role in maintaining the integrity of epithelial cells and may be linked to conditions like inflammatory bowel diseases (IBD), including Crohn’s disease.
• UBL3: UBL3 (Ubiquitin-Like 3): UBL3 is a gene that encodes a protein similar to ubiquitin, an important molecule in the protein degradation pathway. UBL3 plays a role in protein modification and is involved in key cellular processes such as signal transduction and membrane trafficking. Dysregulation of UBL3 may contribute to various cellular dysfunctions.
• GCK: GCK (Glucokinase): GCK is a gene that encodes the enzyme glucokinase, a key regulator of glucose metabolism in the body. Glucokinase catalyzes the first step of glucose processing in the liver and pancreatic beta cells. It acts as a glucose sensor, playing a vital role in detecting blood sugar levels, triggering insulin release, and maintaining overall glucose balance.
• TCF12: TCF12 (Transcription Factor 12): TCF12 is a member of the basic helix-loop-helix (bHLH) transcription factor family, involved in regulating gene expression during development and cell differentiation. TCF12 plays a key role in nervous system and muscle tissue development, influencing cell fate decisions and tissue formation. Mutations in TCF12 are associated with craniosynostosis, a condition mark
• VAV3: VAV3 (Vav Guanine Nucleotide Exchange Factor 3): VAV3 is a protein that functions as a guanine nucleotide exchange factor, involved in intracellular signaling pathways that regulate cell proliferation and cytoskeletal rearrangement. It plays an important role in immune cell activation and may be linked to immune responses and cancer development.
• PFKM: PFKM (Phosphofructokinase, Muscle): PFKM is a gene that encodes an enzyme essential for glycolysis and glucose metabolism in muscle tissue. It plays a key role in generating energy during physical activity and muscle contraction, making it critical for optimal muscle performance and function.
• MTCH2: MTCH2 (Mitochondrial Carrier Homolog 2): MTCH2 is a gene that encodes a protein involved in mitochondrial function and energy metabolism. It is thought to play a role in mitochondrial transport and metabolic processes. While its exact functions are still being studied, MTCH2 may influence cellular energy balance and metabolic health.
• CD44: CD44 (Cluster of Differentiation 44): CD44 is a cell surface glycoprotein that plays a key role in cell adhesion and migration. It is involved in several important cellular processes, including tissue regeneration, lymphocyte activation, and cancer metastasis. As a primary receptor for hyaluronic acid, CD44 also has significant roles in inflammation and tissue repair.
• FIBIN: FIBIN (Fibin): FIBIN is a gene that encodes a protein essential for embryonic development, especially in the formation of the heart and blood vessels. It is involved in signaling pathways that guide cell differentiation and tissue formation. Mutations in FIBIN have been linked to developmental disorders affecting cardiovascular structure and function.
• ZKSCAN5: ZKSCAN5 (Zinc Finger with KRAB and SCAN Domains 5): ZKSCAN5 encodes a zinc finger protein containing KRAB (Krüppel-associated box) and SCAN (SRE-ZBP, CTfin51, AW-1, and Number 18 cDNA) domains. These domains play important roles in transcriptional regulation and DNA binding. The specific functions of ZKSCAN5 are still under investigation.
• PDE10A: PDE10A (Phosphodiesterase 10A): PDE10A is a gene that encodes the enzyme phosphodiesterase 10A, which regulates intracellular signaling by breaking down cyclic nucleotides, mainly cAMP and cGMP. This enzyme is primarily expressed in the brain and plays a key role in neuronal signaling. PDE10A has also been linked to various neurological and psychiatric disorders.
• TTC6: TTC6 (Tetratricopeptide Repeat Domain 6): TTC6 is a gene that encodes a protein containing tetratricopeptide repeat domains, which are known for facilitating protein-protein interactions. TTC6 plays a role in several cellular processes, including protein trafficking and signaling pathways. Its precise functions in human physiology are still under investigation.
• TRHDE: TRHDE (Thyrotropin-Releasing Hormone Degrading Enzyme): TRHDE is a measure that reflects the activity of an enzyme responsible for breaking down thyrotropin-releasing hormone (TRH). TRH plays a key role in regulating the thyroid axis, and TRHDE is important for maintaining hormonal balance, with implications for metabolism and mood regulation.
• MRPS31: MRPS31 (Mitochondrial Ribosomal Protein S31): MRPS31 is a component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a key role in producing proteins required for proper mitochondrial function and energy generation. Defects in MRPS31 can result in mitochondrial disorders that impact multiple body systems.
• ADCY5: ADCY5 (Adenylate Cyclase 5) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a vital signaling molecule. This enzyme helps regulate important cellular functions like neurotransmission and hormone signaling, and it may influence neurological and metabolic processes.
• KRT72: KRT72 (Keratin 72): KRT72 is a gene that encodes a type II keratin, a key component of the cytoskeletal structure in epithelial cells. It plays an important role in maintaining the structural integrity and proper function of hair follicles. Mutations in KRT72 are often linked to hair disorders, highlighting its essential role in hair formation and maintenance.
• ADARB1: ADARB1 (Adenosine Deaminase RNA-Specific B1) is a gene that encodes an enzyme involved in RNA editing — a process that modifies RNA molecules after transcription. This editing can affect RNA stability, function, and how genes are expressed. ADARB1 plays an important role in brain function and has been linked to the regulation of neural activity and neurological disorders.
• SLC16A9: SLC16A9 (Solute Carrier Family 16 Member 9) is a gene that encodes a protein belonging to the solute carrier family, which helps transport small molecules across cell membranes. While its exact substrates and functions are still being studied, SLC16A9 plays a role in cellular transport processes.
• MTX1: MTX1 (Metaxin 1): MTX1 is a gene that encodes a protein involved in mitochondrial transport and organization. This protein helps maintain proper mitochondrial positioning and function, which is essential for energy production and overall cellular processes.
• STMN4: STMN4 (Stathmin-Like 4): STMN4 is a gene that encodes a protein involved in microtubule dynamics and regulation. It plays a role in cytoskeleton organization and may influence key cellular processes such as cell division and intracellular transport.
• MROH8: MROH8 (Maestro Heat Like Repeat Family Member 8): MROH8 is a gene that encodes a protein containing heat-like repeat domains, which are involved in mediating protein-protein interactions. Its specific biological role is not yet fully understood and remains under investigation.
• HNRNPA1P48: HNRNPA1P48 (Heterogeneous Nuclear Ribonucleoprotein A1 Pseudogene 48): HNRNPA1P48 is a pseudogene related to the HNRNPA1 gene, which encodes a protein involved in mRNA processing and transport. While HNRNPA1P48 may not produce a functional protein, it could have regulatory roles in gene expression, such as generating non-coding RNAs or acting as decoys for regulatory molecules. Its precise functio
• 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
• G6PC2: G6PC2 (Glucose-6-Phosphatase Catalytic Subunit 2): G6PC2 is an enzyme involved in glucose metabolism that catalyzes the hydrolysis of glucose-6-phosphate to glucose. It plays a key role in regulating blood glucose levels, contributing significantly to glucose homeostasis and overall metabolic health.
• CARD9: CARD9 (Caspase Recruitment Domain Family Member 9): CARD9 is a gene that plays a key role in innate immune signaling. It encodes a protein containing a caspase recruitment domain (CARD) and is involved in activating immune cells and producing cytokines in response to fungal pathogens. CARD9 is essential for mounting an effective immune response against fungal infections.
• TIMELESS: TIMELESS is a gene involved in regulating circadian rhythms and DNA replication. It interacts with other circadian clock genes to help control the body’s internal clock and may influence sleep-wake cycles and overall circadian regulation.
• GCKR: GCKR (Glucokinase Regulator): GCKR is a gene that encodes a protein responsible for regulating glucokinase, an enzyme essential in glucose metabolism. Variations in GCKR can affect glucose homeostasis and have been linked to diabetes and other metabolic disorders.
• HMGA2: HMGA2 (High Mobility Group AT-Hook 2): HMGA2 is a gene that encodes a protein that binds to DNA and chromatin to help regulate gene expression. It is important in embryonic development and cell differentiation. Changes in HMGA2 are linked to various cancers, from benign tumors such as lipomas to aggressive malignancies like certain sarcomas.
• CTLA4: CTLA4 (Cytotoxic T-Lymphocyte-Associated Protein 4) is a gene that encodes a protein involved in downregulating immune responses by inhibiting T-cell activation. It competes with CD28 for binding to CD80/CD86 on antigen-presenting cells, helping to maintain immune balance and prevent overactivation. Dysregulation of CTLA4 is linked to autoimmune conditions and impaired immune tolerance.
• LRRC7: LRRC7 (Leucine Rich Repeat Containing 7): LRRC7 is a gene that encodes a protein involved in synaptic functions in the brain. It is particularly associated with dendritic spines, which are vital for synaptic transmission and plasticity. Alterations in LRRC7 have been linked to neurological conditions, highlighting its role in brain development and function.
• ADAMTS10: ADAMTS10 (A Disintegrin and Metalloproteinase with Thrombospondin Motifs 10) is a gene that encodes a protein involved in remodeling the extracellular matrix, especially in connective tissues. It plays a key role in tissue development and repair, particularly in cartilage and bone. Variants in ADAMTS10 have been linked to connective tissue disorders and skeletal abnormalities.
• PIK3AP1: PIK3AP1 (Phosphoinositide-3-Kinase Adaptor Protein 1): PIK3AP1 is a protein that plays a key role in the PI3K signaling pathway. This pathway is essential for various cellular processes such as cell growth, proliferation, and survival. PIK3AP1’s involvement in immune cell signaling makes it important in research related to immunity, inflammation, and cancer biology.
• RREB1: RREB1 (Ras Responsive Element Binding Protein 1): RREB1 is a gene that encodes a transcription factor binding to the Ras-responsive element (RRE). It is involved in regulating gene expression in response to Ras signaling and plays a role in cell growth and proliferation.
• KL: KL (Klotho): KL encodes a protein linked to aging and longevity. Klotho helps regulate calcium and phosphate metabolism and is believed to suppress aging-related processes. It is of significant interest in aging research for its potential to extend lifespan and improve age-related health.
• SH2B3: SH2B3 (SH2B Adaptor Protein 3): SH2B3 (SH2B Adaptor Protein 3) is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a key role in maintaining hematopoietic stem cell homeostasis and controlling immune responses. Mutations in SH2B3 are linked to various hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, highlighting
• H2BC5: H2BC5 (Histone Cluster 2, H2bc5): H2BC5 is a protein belonging to the histone H2B family. These proteins play essential roles in packaging and organizing DNA within the nucleus of eukaryotic cells. H2BC5 helps form nucleosomes, the basic repeating units of chromatin, where DNA is wrapped around a core of histone proteins. Through various modifications, H2BC5 and other histones regulate gene expres
• ZBED3: ZBED3 (Zinc Finger BED-Type Containing 3): ZBED3 is a gene that encodes a zinc finger protein, a type of protein domain involved in regulating gene expression. While the specific functions of ZBED3 are still being studied, zinc finger proteins typically bind to DNA and influence gene activity. ZBED3 may play a role in modulating gene expression, contributing to various cellular processes and pathw
• RUNX3: RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a gene that encodes a transcription factor involved in regulating gene expression. It contributes to key cellular processes, including cell differentiation and immune responses. Dysregulation of RUNX3 has been linked to cancer and developmental disorders.
• MAF: MAF (MAF BZIP Transcription Factor): MAF is a gene that encodes a transcription factor involved in the development and differentiation of various tissues, including the eye lens and pancreatic beta cells. It regulates gene expression and influences cell fate decisions. Mutations in MAF have been linked to developmental disorders and certain diseases.
• PDE8B: PDE8B (Phosphodiesterase 8B): PDE8B is a gene that encodes the phosphodiesterase 8B enzyme. Like PDE10A, it helps regulate cyclic nucleotide signaling, though its roles can differ across tissues and cell types. PDE8B may influence a variety of physiological processes.
• TSPAN3: TSPAN3 (Tetraspanin 3): TSPAN3 is a protein that belongs to the tetraspanin family, which is involved in cell adhesion, signaling, and membrane organization. It plays roles in processes such as immune cell activation and the spread of cancer cells (metastasis).
• MC4R: MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor that plays a key role in regulating energy balance, appetite, and body weight. Mutations in MC4R are among the most common genetic causes of obesity, highlighting its importance in controlling energy homeostasis. It is also a target for developing obesity treatments.
• TOP1: TOP1 (DNA Topoisomerase I): TOP1 is a gene that encodes the enzyme DNA topoisomerase I, which plays a key role in DNA replication and repair. This enzyme helps relieve torsional stress in DNA by creating temporary breaks in the double helix. TOP1 is essential for maintaining genomic stability and ensuring accurate DNA replication and transcription.
• CAMK1D: CAMK1D (Calcium/Calmodulin Dependent Protein Kinase ID): CAMK1D is a member of the calcium/calmodulin-dependent protein kinase family, involved in mediating cellular responses to calcium signals. It plays a role in regulating gene expression, the cell cycle, and metabolism. CAMK1D has been linked to diabetes and cardiovascular diseases, highlighting its importance in metabolic regulation and cellu
• OVOL1: OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 is a gene that encodes a transcriptional repressor involved in regulating gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and the formation of tissue barriers.
• BACH2: BACH2 (BTB and CNC Homology 1, Basic Leucine Zipper Transcription Factor 2): BACH2 is a gene that encodes a transcription factor involved in regulating the immune system. It plays a key role in maintaining immune balance by controlling the development and function of important immune cells, such as B cells and T cells. Dysregulation of BACH2 has been linked to autoimmune diseases and increased vul
• SOS2: SOS2 (Son of Sevenless Homolog 2): SOS2 is a protein involved in cell signaling and the activation of the Ras/MAPK pathway. It plays a key role as a mediator in cellular responses to growth factors, cytokines, and extracellular signals, contributing to diverse physiological processes and cellular functions.
• DLG2: DLG2 (Discs Large Homolog 2) is a gene that encodes a protein from the membrane-associated guanylate kinase (MAGUK) family, which is important for synaptic assembly and function. This protein plays a key role in the nervous system by supporting synaptic plasticity and neuronal signaling. Changes in DLG2 have been associated with neurological disorders, highlighting its importance in brain developm
• SLC39A8: SLC39A8 (Solute Carrier Family 39 Member 8) is a gene that encodes a transporter protein responsible for the cellular uptake of important divalent metals like zinc and manganese. This protein helps maintain metal ion balance, which is essential for immune function, brain development, and other biological processes. Variations in SLC39A8 have been linked to several health conditions, including cong
• FOXA2: FOXA2 (Forkhead Box A2): FOXA2 is a transcription factor that plays a critical role in the development and function of multiple tissues, including the liver, pancreas, and lungs. It regulates genes involved in metabolism, development, and cell differentiation. In the pancreas, FOXA2 is essential for the formation and proper function of insulin-producing beta cells, helping maintain glucose balance
• GPR151: GPR151 (G Protein-Coupled Receptor 151): GPR151 is a gene that encodes a G protein-coupled receptor (GPCR). GPCRs are involved in cell signaling and respond to various signaling molecules. Although the specific function of GPR151 is still being investigated, it may play a role in neural and metabolic processes.
• APP: APP (Amyloid Precursor Protein): APP is a measure that reflects the role of a key transmembrane protein involved in various cellular processes, especially in the central nervous system. APP is essential for neuronal development, synaptic plasticity, and cell signaling. Its processing produces amyloid-beta peptides, which are linked to the development of Alzheimer's disease. Proper regulation of AP
• 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.
• CCND1: CCND1 (Cyclin D1): CCND1 is a gene that encodes cyclin D1, a key protein involved in regulating the cell cycle. Cyclins, including cyclin D1, coordinate the progression of the cell cycle, with CCND1 playing a crucial role in promoting cell division and proliferation. Dysregulation of CCND1 is commonly associated with various cancers, highlighting its significance as an important oncogene.
• PPA2: PPA2 (Inorganic Pyrophosphatase 2): PPA2 is a gene that encodes an enzyme responsible for catalyzing the hydrolysis of pyrophosphate (PPi) into inorganic phosphate (Pi). This activity is important for cellular energy metabolism and nucleotide biosynthesis. Dysfunction in PPA2 may affect energy production and nucleotide metabolism.
• CDKN2A: CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): CDKN2A is a tumor suppressor gene that produces two proteins, p16INK4A and p14ARF, which are involved in regulating the cell cycle and preventing tumor development. Mutations in CDKN2A are linked to a higher risk of several cancers, including melanoma and pancreatic cancer.
• SLC38A11: SLC38A11 (Solute Carrier Family 38 Member 11): SLC38A11 is a protein involved in amino acid transport and nutrient sensing. It plays a key role in regulating mTORC1 signaling, which is essential for controlling cell growth and metabolism.
• PAM: PAM (Peptidylglycine Alpha-Amidating Monooxygenase): PAM is an enzyme that catalyzes the amidation of peptide hormones — a key step in the maturation of neuropeptides and peptide hormones. This process is essential for proper neurotransmitter synthesis and hormone activity. Dysregulation of PAM can affect neuropeptide function and disrupt hormonal signaling.
• LRFN5: LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN family of proteins. It is involved in neuronal development and synaptic function, playing a role in the formation and maintenance of neural circuits. Dysfunctions in LRFN5 may contribute to neurodevelopmental disorders.
• CSMD1: CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene involved in brain development and neural function. It is believed to contribute to immune system regulation and synaptic plasticity. Variations in CSMD1 have been linked to neuropsychiatric conditions, including schizophrenia and cognitive abilities.
• ITGA1: ITGA1 (Integrin Subunit Alpha 1): ITGA1 is a gene that encodes a protein belonging to the integrin alpha chain family. These proteins play key roles in cell adhesion and signal transduction, particularly in mediating interactions between cells and the extracellular matrix. Mutations in ITGA1 are associated with various pathological conditions, including fibrosis and cancer metastasis.
• MFSD10: MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. While its specific function is still under investigation, MFSD10 may play a role in nutrient transport and the maintenance of cellular homeostasis.
• FAP: FAP (Fibroblast Activation Protein Alpha): FAP is a gene that encodes an enzyme called fibroblast activation protein alpha. This enzyme is expressed by activated fibroblasts within the tumor microenvironment. It plays an important role in tissue remodeling and is considered a potential therapeutic target in cancer treatment.
• RASSF3: RASSF3 (Ras Association Domain Family Member 3): RASSF3 is a gene that encodes a tumor suppressor protein involved in regulating the cell cycle, apoptosis, and cellular senescence. It acts as a mediator in signaling pathways related to Ras proteins, which are essential for cell growth, differentiation, and survival. RASSF3 also interacts with microtubules and other cellular structures, helping mai
• CCND2: CCND2 (Cyclin D2): CCND2 is a member of the cyclin family and plays a key role in regulating the cell cycle. It forms complexes with cyclin-dependent kinases (CDKs) to control the transition from the G1 phase to the S phase. Dysregulation of CCND2 can lead to uncontrolled cell growth and is linked to the development of various cancers.
• COQ5: COQ5 (Coenzyme Q5 Homolog, Methyltransferase): COQ5 (Coenzyme Q5 Homolog, Methyltransferase) is an enzyme involved in the biosynthesis of coenzyme Q (CoQ), a vital molecule for mitochondrial energy production. It catalyzes a crucial methylation step in the CoQ pathway. Mutations in COQ5 can cause CoQ deficiency, impacting mitochondrial function and contributing to energy metabolism disorders.
• LEPR: LEPR (Leptin Receptor): LEPR is a receptor for the hormone leptin, playing a key role in regulating energy balance, including appetite and metabolism. Proper LEPR function is essential for the body to respond to leptin signals, while mutations in LEPR can cause leptin resistance, a condition commonly associated with obesity.
• PROX1: PROX1 (Prospero Homeobox 1): PROX1 is a transcription factor that regulates gene expression and is involved in key developmental processes. It plays a central role in lymphatic vessel formation, liver development, and cell fate determination. In the lymphatic system, PROX1 acts as a master regulator of lymphatic endothelial cell differentiation and maintenance.
• CBLB: CBLB (C-Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase): CBLB is a gene that encodes an E3 ubiquitin ligase protein involved in regulating intracellular signaling pathways by targeting proteins for degradation. It plays a role in immune responses, particularly by negatively regulating T cell activation. Dysregulation of CBLB may contribute to autoimmune diseases and other immune-related disorde
• 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.
• MICB: MICB (MHC Class I Polypeptide-Related Sequence B): MICB is a stress-induced ligand for the NKG2D receptor, which is expressed on natural killer (NK) cells, CD8+ T-cells, and certain γδ T-cells. The interaction between MICB and NKG2D is essential for immune surveillance, helping the body recognize and eliminate malignant or infected cells. Upregulation of MICB on stressed, transformed, or infected
• 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.
• SEC16B: SEC16B (SEC16 Homolog B): SEC16B is a gene involved in regulating protein trafficking within cells, especially in the endoplasmic reticulum (ER) to Golgi transport pathway. It plays a role in protein secretion and is important for cellular processes like the ER stress response and protein quality control.
• FN3KRP: FN3KRP (Fructosamine 3 Kinase-Related Protein) is a protein involved in fructosamine metabolism and may help regulate glucose levels in the body. It is related to the enzyme fructosamine 3 kinase and may influence glycation processes, which are linked to the formation of advanced glycation end-products (AGEs) that affect diabetes and aging-related conditions.
• NUDT9: NUDT9 (Nudix Hydrolase 9): NUDT9 is a gene that encodes a member of the Nudix hydrolase family. Proteins in this family are involved in the hydrolysis of nucleoside diphosphate derivatives. While the specific substrates and functions of NUDT9 are still being studied, it plays a role in nucleotide metabolism and cellular homeostasis.
• KCNK17: KCNK17 (Potassium Channel Subfamily K Member 17): KCNK17 is a gene that encodes a member of the two-pore domain potassium (K⁺) channel family. It plays an important role in ion channel function and is involved in regulating cellular excitability and membrane potential.
• MDGA1: MDGA1 (MAM Domain Containing Glycosylphosphatidylinositol Anchor 1): MDGA1 is a protein involved in neural development and cell adhesion. It plays a key role in axon guidance and contributes to neural connectivity and synaptic function.
• PDE6C: PDE6C (Phosphodiesterase 6C) is a gene that encodes a subunit of the phosphodiesterase 6 enzyme, which is vital for phototransduction in the retina. This process converts light into electrical signals in photoreceptor cells, enabling vision. Mutations in PDE6C are associated with visual impairments and retinal disorders, highlighting its essential role in visual function.
• UBLCP1: UBLCP1 (Ubiquitin Like Domain Containing CTD Phosphatase 1): UBLCP1 is a protein that reflects the activity of a phosphatase involved in regulating RNA polymerase II, a key enzyme in transcription. UBLCP1 plays a crucial role in dephosphorylating the C-terminal domain of RNA polymerase II, influencing gene expression and impacting various cellular processes and disease mechanisms.
• UBE2V2: UBE2V2 (Ubiquitin-Conjugating Enzyme E2 Variant 2): UBE2V2 is a gene involved in the ubiquitin-proteasome system, a key pathway responsible for protein degradation and turnover. It plays a role in attaching ubiquitin molecules to target proteins, marking them for degradation. Through this process, UBE2V2 influences cellular functions, protein stability, and the response to cellular stress.
• ADCY6: ADCY6 (Adenylate Cyclase 6) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a vital signaling molecule in the body. cAMP plays a key role in processes such as neurotransmission, hormone signaling, and cellular communication. Through these functions, ADCY6 may influence brain activity, metabolic regulation, and neuropsychiatric health.
• TRMO: TRMO (tRNA Methyltransferase 10 Homolog A): TRMO (tRNA Methyltransferase 10 Homolog A) is a gene that plays a role in tRNA modification. It encodes an enzyme responsible for methylating specific nucleotides in tRNA molecules. These tRNA modifications are essential for ensuring accurate protein synthesis during translation.
• KCNJ11: KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11): KCNJ11 is a gene that encodes a protein forming part of the ATP-sensitive potassium (KATP) channel in pancreatic beta cells. These channels are essential for regulating insulin secretion and maintaining glucose homeostasis. Variations in KCNJ11 are linked to an increased risk of type 2 diabetes.
• PFKL: PFKL (Phosphofructokinase, liver type): PFKL is an enzyme involved in glycolysis — an important metabolic pathway that breaks down glucose to produce energy. It plays a crucial role in glucose metabolism and energy production, especially in the liver where it supports both glucose utilization and storage.
• VEGFA: VEGFA (Vascular Endothelial Growth Factor A): VEGFA is a key regulator involved in blood vessel formation and vascular function. As an important member of the vascular endothelial growth factor (VEGF) family, VEGFA promotes the proliferation and migration of endothelial cells, driving angiogenesis — the formation of new blood vessels. This process is essential for physiological functions such as w
• 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.
• CSNK2A1: CSNK2A1 (Casein Kinase 2 Alpha 1) is a gene that encodes the alpha subunit of casein kinase 2, a serine/threonine protein kinase involved in regulating cell growth, proliferation, and signal transduction. Altered activity of CSNK2A1 has been associated with cancer development and certain developmental disorders.
• ABCA6: ABCA6 (ATP-Binding Cassette Subfamily A Member 6) is a protein that belongs to the ATP-binding cassette (ABC) transporter family. It plays a key role in transporting lipids across cellular membranes, contributing to lipid metabolism and maintaining cellular lipid balance.
• DAAM2: DAAM2 (Dishevelled Associated Activator of Morphogenesis 2) is a protein that regulates cytoskeletal organization and cell shape. It plays an important role in processes such as cell movement, tissue development, and morphogenesis.
• MSTN: MSTN (Myostatin): MSTN is a protein that functions as a negative regulator of muscle growth and development. Reducing or blocking myostatin activity can lead to increased muscle mass and strength, making MSTN a key focus in research on muscle growth enhancement and treatments for muscle-wasting disorders.
• FZD8: FZD8 (Frizzled Class Receptor 8): FZD8 is a gene that encodes a receptor for Wnt signaling proteins. It plays a crucial role in embryonic development and cell signaling pathways. FZD8 is essential for processes such as cell differentiation, proliferation, and polarity. Abnormalities in FZD8 signaling are linked to developmental defects and several types of cancer.
• MGA: MGA (MAX Gene Associated): MGA is a large transcription factor involved in regulating cell growth and division. It plays a key role within a network of genes that control the cell cycle and has been linked to the development of certain cancers, due to its interactions with oncogenes and tumor suppressor genes.
• GLP1R: GLP1R (Glucagon-Like Peptide 1 Receptor): GLP1R is a receptor for the hormone GLP-1, which plays a key role in regulating insulin secretion and glucose metabolism. When activated by GLP-1 or its analogs, GLP1R enhances insulin release, reduces glucagon secretion, and promotes feelings of fullness, making it an important target in treatments for type 2 diabetes and obesity.
• CPXM2: CPXM2 (Carboxypeptidase X, M14 Family Member 2): is a gene that encodes an enzyme that functions in the modification of proteins by removing terminal amino acids. This process is crucial in various biological processes, including protein maturation and degradation. The enzyme’s role in developmental processes and neural activity has also been noted.
• GIPR: GIPR (Glucose-Dependent Insulinotropic Polypeptide Receptor): GIPR is a gene that encodes the receptor for the hormone GIP, which helps stimulate insulin release after eating. This receptor plays a key role in regulating glucose metabolism and insulin secretion, supporting the body’s response to food intake.
• RPS20: RPS20 (Ribosomal Protein S20): RPS20 is a ribosomal protein that plays a key role in ribosome assembly and protein synthesis. It is a component of the small ribosomal subunit and is essential for proper translation. Mutations in RPS20 and other ribosomal proteins can lead to ribosomopathies, a group of disorders marked by defective ribosome function and developmental abnormalities.
• SLC17A1: SLC17A1 (Solute Carrier Family 17 Member 1): SLC17A1 encodes a vesicular glutamate transporter that is responsible for packaging and releasing glutamate, a key neurotransmitter, into synaptic vesicles. This protein plays a vital role in neuronal communication and synaptic transmission.
• ME1: ME1 (Malic Enzyme 1): ME1 is a gene that encodes an enzyme involved in metabolic processes, specifically the conversion of malate to pyruvate in the citric acid cycle. It plays a key role in energy metabolism and the production of NADPH, which supports cellular functions like lipid synthesis.
• ZIC2: ZIC2 (Zic Family Member 2): ZIC2 is a transcription factor that plays a key role in neural development, especially in the formation of the midbrain and hindbrain. Mutations in ZIC2 are linked to holoprosencephaly, a developmental disorder impacting brain and facial formation.
• 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.
• C2CD4B: C2CD4B (C2 Calcium-Dependent Domain Containing 4B): C2CD4B is a gene that encodes a protein featuring C2 calcium-dependent domains. These domains are commonly found in proteins that participate in calcium-mediated cellular processes. Although the exact function of C2CD4B remains under investigation, its structure suggests a potential role in calcium signaling pathways and membrane dynamics. Furthe
• LIN7C: LIN7C (Lin-7 Homolog C, Crumbs Cell Polarity Complex Component): LIN7C is a protein that reflects the role of the LIN7 family in establishing and maintaining cell polarity. It is essential for proper cell function and tissue organization, particularly in neural and epithelial cells. Mutations or dysregulation of LIN7C can disrupt cell polarity and signaling, potentially contributing to development
• PRSS16: PRSS16 (Serine Protease 16): PRSS16 encodes a serine protease enzyme that plays a key role in protein digestion. This enzyme is essential for breaking down dietary proteins in the stomach and small intestine into smaller peptides and amino acids, which can then be absorbed and used by the body.
• ACVR1: ACVR1 (Activin Receptor Type 1) is a gene that encodes a receptor for activin, a protein involved in regulating cell growth and differentiation. This receptor plays a key role in signaling pathways that control how cells proliferate and develop. Mutations in ACVR1 are linked to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder marked by abnormal bone formation in soft tissues.
• ANKRD30A: ANKRD30A (Ankyrin Repeat Domain 30A) is a gene that encodes a protein containing ankyrin repeat domains, which facilitate protein-protein interactions. This protein is primarily expressed in breast tissue and has been associated with breast cancer, where it may serve as a potential biomarker or therapeutic target in research and treatment.
• ORMDO3: ORMDO3 (Oligoribonuclease, mitochondrial): ORMDO3 is a gene that encodes an enzyme essential for maintaining cellular homeostasis within the mitochondria. ORMDO3 specifically degrades short mitochondrial RNA fragments, helping regulate mitochondrial gene expression and ensuring proper mitochondrial function. Dysregulation of ORMDO3 can lead to RNA accumulation, impaired mitochondrial activity, and
• FCRL3: FCRL3 (Fc Receptor-Like 3) is a protein primarily expressed in B cells and is part of the Fc receptor-like (FCRL) family. It plays a role in regulating B cell receptor signaling and antibody production, influencing immune system activity and potentially contributing to autoimmune disease development.
• FANCC: FANCC (Fanconi Anemia Complementation Group C): FANCC is a gene that encodes a protein involved in the Fanconi anemia (FA) pathway, which is essential for DNA repair and maintaining genomic stability. Mutations in FANCC can lead to Fanconi anemia, a rare genetic disorder associated with bone marrow failure, congenital anomalies, and an increased risk of cancer.
• RSPO3: RSPO3 (R-Spondin 3): RSPO3 is a member of the R-spondin family that modulates the Wnt signaling pathway, which is essential for embryonic development and cell growth. It plays key roles in processes such as vascular development and stem cell proliferation. Dysregulation of RSPO3 has been associated with conditions including cancer.
• FBXO21: FBXO21 (F-Box Protein 21): FBXO21 is a gene that encodes a protein belonging to the F-box family, which plays a key role in the ubiquitin-proteasome system responsible for protein degradation. It is involved in regulating important cellular processes like the cell cycle and signal transduction. Dysregulation of FBXO21 can affect protein homeostasis and is relevant in diseases characterized by disr
• TCF7L2: TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signaling pathway, which plays an important role in cell growth and development. Variants in this gene have been strongly linked to an increased risk of type 2 diabetes, likely through their impact on insulin secretion and glucose metabolism. Understanding TCF7L2 is essential for uncovering the genetic basis of diabetes a
• CDKAL1: CDKAL1 (CDK5 Regulatory Subunit-Associated Protein 1-Like 1): CDKAL1 is a gene involved in the regulation of insulin secretion from pancreatic beta cells and glucose metabolism. It plays a key role in maintaining glucose homeostasis. Variations in CDKAL1 have been linked to an increased risk of type 2 diabetes.
• BCL2: BCL2 (B-Cell Lymphoma 2): BCL2 is a gene that encodes a protein involved in regulating apoptosis, the process of programmed cell death. BCL2 proteins play a key role in maintaining the balance between cell survival and cell death. Dysregulation of BCL2 is associated with cancer and other diseases.
• PPP1CB: PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB is a gene that encodes a catalytic subunit of protein phosphatase 1 — an enzyme essential for regulating cellular processes through dephosphorylation. It plays critical roles in muscle contraction, glycogen metabolism, and cell division. Dysregulation of PPP1CB activity has been linked to various diseases, including heart conditions and
• PDE4C: PDE4C (Phosphodiesterase 4C): PDE4C is a gene that encodes the enzyme phosphodiesterase 4C, which helps regulate intracellular levels of cAMP, a key molecule in cellular signaling. This enzyme plays an important role in cell communication and is a target for medications used to treat respiratory conditions like asthma and chronic obstructive pulmonary disease (COPD).
• SLC6A16: SLC6A16 (Solute Carrier Family 6 Member 16) is a gene that encodes a transporter protein involved in the movement of amino acids and neurotransmitters within the nervous system. It plays a key role in maintaining neurotransmitter balance, and disruptions in its function may be linked to neurological conditions.
• 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.
• JAZF1: JAZF1 (JAZF Zinc Finger 1): JAZF1 is a gene associated with endometrial cancer and reproductive health. It plays a role in regulating gene expression and cellular processes in the endometrium.
• SOX9: SOX9 (SRY-Box Transcription Factor 9): SOX9 is a transcription factor that plays a vital role in the development of various tissues, including cartilage, bone, and male gonads. It is essential for proper tissue formation, and mutations in SOX9 can result in skeletal and reproductive developmental abnormalities.
• AS3MT: AS3MT (Arsenic (+3) Methyltransferase) is a gene that encodes an enzyme involved in the detoxification of arsenic, a toxic environmental metalloid. This enzyme facilitates the methylation of arsenic, allowing it to be more easily eliminated from the body. AS3MT plays a key role in arsenic metabolism and may influence an individual’s susceptibility to arsenic-related health effects.
• MPC1: MPC1 (Mitochondrial Pyruvate Carrier 1): MPC1 is a gene involved in mitochondrial function and energy metabolism. It plays a key role in transporting pyruvate into mitochondria, which is essential for energy production. Dysregulation of MPC1 can affect mitochondrial metabolism and cellular energy balance.
• 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.
• 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.
• TUSC1: TUSC1 (Tumor Suppressor Candidate 1): TUSC1 is a gene believed to function as a tumor suppressor, playing a role in controlling cell growth and promoting apoptosis. Reduced expression of TUSC1 has been observed in various cancers, supporting its potential protective role against cancer development.
• TFAP2B: TFAP2B (Transcription Factor AP-2 Beta): TFAP2B is a gene that encodes a transcription factor involved in regulating gene expression during embryonic development and differentiation. Mutations in TFAP2B have been linked to developmental disorders and are also associated with conditions such as obesity and diabetes.
• RAD9A: RAD9A (RAD9 Homolog A): RAD9A is a gene involved in DNA repair and cell cycle checkpoint control. It helps maintain genomic stability by preventing the proliferation of damaged cells. Dysregulation of RAD9A can impair DNA repair mechanisms and contribute to genomic instability.

How to prepare

No special preparation is required before taking the test. Avoid eating, drinking, smoking, or chewing gum for at least 30 minutes before sample collection to ensure sample quality.

Frequently asked questions

What can this test tell me about my metabolism?

The test provides insight into how your body may process glucose, fats, and energy, helping you understand potential individual differences in metabolic function.

Can this test diagnose metabolic conditions?

No, this test does not diagnose medical conditions. It provides insight into genetic variations associated with metabolic processes, which should be interpreted in a broader health context.

How is this different from blood sugar testing?

This test analyzes genetic predisposition, while blood tests measure current levels. Together, they can provide a broader understanding of metabolic health.

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

4.7/5 (3)

• 4/5 — Took a while to get the results back, but the report is very detailed and professional.
• 5/5 — Easy saliva sample and the results on fat metabolism were actually really insightful for my diet planning.
• 5/5 — Simple process and helpful for understanding my blood sugar genetics.