DNA Skin & Beauty Test

About this test

Key Benefits

• Skin and Beauty Genetic Insights: Analyzes 176 biomarkers linked to skin aging, hydration, pigmentation, sensitivity and hair health.

• Personalized Skincare Guidance: Helps you better understand which skin related pathways may need more support.

• Relevant for Common Skin Concerns: May provide insight into genetic tendencies related to wrinkles, acne, rosacea, sensitivity, age spots and hair changes.

• Digital Results in 3 to 5 Weeks: Access your DNA report online when the analysis is complete.

What This Test Measures

Skin Aging and Structure
This group focuses on genetic pathways related to collagen, elasticity, wrinkle formation and skin structure. These pathways can provide insight into how the skin may maintain firmness and resilience over time.

Hydration, Sensitivity and Inflammation
This group includes pathways linked to moisture balance, skin barrier function, inflammatory response and sensitivity. These insights may be relevant for skin that feels reactive, easily irritated or prone to redness.

Pigmentation, Acne and Hair Health
This group looks at genetic tendencies related to pigmentation, age spots, acne related patterns, hair loss, greying and other skin and hair traits. These pathways can help give a broader view of how your skin and hair may respond to internal and external factors.

How It Works

1. Order Your Kit
Purchase your DNA Skin and Beauty Test online.

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

3. Send It Back
Mail your sample to the laboratory using the included return materials.

4. Receive Your Results
Access your digital DNA report online in 3 to 5 weeks.

Saliva Sample Collection

The sample is collected using a simple saliva test at home. You provide a saliva sample in the collection tube and send it to the laboratory for analysis according to the included instructions.

ISO Certified Lab and Analysis

Your sample is analyzed in an ISO certified laboratory using the Illumina GSA Microarray, a SNP genotyping method used to analyze selected genetic variations.

Biomarkers included

• H4C13: H4C13 (Histone Cluster 4, H4C13) is a gene that encodes a component of histone H4, a core protein essential for chromatin structure in eukaryotic cells. Histones are key regulators of gene expression and DNA repair, playing a vital role in maintaining genomic stability.
• SUOX: SUOX (Sulfite Oxidase): SUOX encodes an enzyme essential for the metabolism of sulfur-containing amino acids. It catalyzes the final step in breaking down cysteine and methionine by converting sulfite into sulfate, which is then excreted in the urine. Proper SUOX activity prevents sulfite buildup, which can cause neurological damage and physical abnormalities known as sulfite oxidase deficiency, u
• 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.
• TENM4: TENM4 (Teneurin Transmembrane Protein 4): TENM4 is a member of the teneurin family, involved in neuronal development and function. It plays a key role in cell-cell adhesion and communication within the nervous system and has been associated with developmental processes and neurological disorders.
• IL34: IL34 (Interleukin 34): IL34 is a cytokine that plays a key role in regulating immune responses. It is involved in the differentiation and survival of specific myeloid cells, including macrophages. Abnormal levels of IL34 have been linked to inflammatory conditions, autoimmune disorders, and cancer.
• EDNRA: EDNRA (Endothelin Receptor Type A) is a receptor that binds endothelins, peptides involved in controlling blood vessel constriction and blood pressure. It plays an important role in cardiovascular function and may contribute to the development of cardiovascular diseases.
• CAVIN1: CAVIN1 (Caveolae Associated Protein 1): CAVIN1 is a key protein required for the formation and function of caveolae — small plasma membrane invaginations involved in processes such as endocytosis and signal transduction. It supports lipid metabolism, endothelial health, and cellular mechanoprotection. Mutations in CAVIN1 are associated with conditions like lipodystrophy and muscular dystrophies, u
• TNIP1: TNIP1 (TNFAIP3 Interacting Protein 1): TNIP1 is a protein that works closely with TNFAIP3 to regulate immune responses by inhibiting NF-kB activation. It plays a key role in maintaining immune balance and preventing autoimmunity. Dysregulation of TNIP1 has been associated with several autoimmune diseases, emphasizing its importance in immune system regulation. Current research explores TNIP1’s pot
• GCSAML: GCSAML (Germinal Center-Associated Signaling And Motility-Like): GCSAML is a gene that is less well characterized but is thought to play a role in immune cell signaling and motility, especially in germinal center B cells. It may be important for the development of immune responses and the regulation of B cell activity.
• MAP3K1: MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1): MAP3K1 is a key component of the MAPK signaling pathway, which regulates essential cellular processes such as proliferation, differentiation, and stress response. Mutations in MAP3K1 can contribute to developmental disorders and are associated with various types of cancer.
• BRAF: BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase): BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) is a critical protein involved in the MAPK/ERK signaling pathway, which controls cell growth, division, and differentiation. Mutations in BRAF are linked to several cancers, including melanoma, thyroid, and colorectal cancer, as well as some non-cancerous conditions like cardiofaciocutaneous
• 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.
• FERD3L: FERD3L (Fer3-Like BHLH Transcription Factor): FERD3L is a transcription factor that may play important roles in neuronal development and differentiation. While its exact functions are still being studied, FERD3L is thought to be involved in key neurodevelopmental processes.
• 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.
• DCAF4: DCAF4 (DDB1 And CUL4 Associated Factor 4) is a key component of the CUL4-DDB1 ubiquitin ligase complex, which is responsible for tagging proteins for degradation through ubiquitination. This process is essential for regulating protein levels, maintaining cellular balance, and managing stress responses. DCAF4 helps determine which proteins are targeted, playing important roles in cell cycle control
• BNIP5: BNIP5 (BCL2/Adenovirus E1B 19 kDa Interacting Protein 5): BNIP5 is a protein involved in regulating apoptosis and cell survival. It interacts with members of the Bcl-2 family — key proteins that control cell death and survival — and plays an important role in research on cancer development and cellular stress responses.
• TIMP4: TIMP4 (TIMP Metallopeptidase Inhibitor 4): TIMP4 is a protein that regulates metalloproteinases, enzymes responsible for breaking down components of the extracellular matrix. TIMP4 plays a key role in tissue remodeling and is important for processes such as wound healing and angiogenesis.
• IRF4: IRF4 (Interferon Regulatory Factor 4): IRF4 is a transcription factor that plays a key role in the immune response, particularly in regulating the function of B and T lymphocytes. It is essential for the differentiation of immune cells and is involved in the development of autoimmune and inflammatory diseases, as well as certain types of leukemia and lymphoma.
• TRIB1: TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. TRIB1 plays key roles in regulating multiple cellular signaling pathways, including those involved in growth, metabolism, and inflammation. It has been linked to lipid metabolism, cardiovascular health, and cancer, with its complex functions continuing to be an active area of rese
• RESF1: RESF1 (Respiratory Factor 1): RESF1 is a gene involved in mitochondrial function and respiratory chain activity. It plays a crucial role in energy production within cells and supports the maintenance of mitochondrial integrity and function.
• SERPINB1: SERPINB1 (Serpin Family B Member 1): SERPINB1 is a protein that belongs to the serpin (serine protease inhibitor) family. It plays a key role in regulating proteolytic pathways involved in inflammation and immune responses. SERPINB1 mainly inhibits neutrophil elastase and cathepsin G, enzymes released by neutrophils during inflammation, helping to prevent excessive tissue damage. Its protective fu
• FAM171A1: FAM171A1 (Family With Sequence Similarity 171 Member A1) is a protein-coding gene with limited current characterization. It is thought to play a role in cellular processes such as protein interactions and signal transduction, though its exact functions in human health and disease remain under investigation.
• HLA-DQA1: HLA-DQA1 (Human Leukocyte Antigen DQ Alpha 1 Chain): HLA-DQA1 is a key component of the MHC class II molecule complex. It plays an essential role in the immune system by presenting peptide antigens to CD4+ T cells. This function is critical for triggering the adaptive immune response against pathogens. Variations in the HLA-DQA1 gene are linked to susceptibility to autoimmune diseases like type 1
• TGFB2: TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine that plays a key role in regulating cell growth, proliferation, differentiation, and apoptosis. It is essential for embryonic development and tissue repair and has been linked to various conditions, including cancer and fibrotic diseases.
• BMP6: BMP6 (Bone Morphogenetic Protein 6): BMP6 is a member of the bone morphogenetic protein (BMP) family, which plays a key role in the development and repair of bone and cartilage. It is involved in essential cellular processes such as cell growth, apoptosis, and differentiation. BMP6 has been studied for its role in osteogenesis and is also associated with cancer progression.
• AEBP2: AEBP2 (Adipocyte Enhancer Binding Protein 2): AEBP2 is a DNA-binding transcription factor involved in regulating gene expression and adipocyte differentiation. It is also a component of the Polycomb Repressive Complex 2 (PRC2), contributing to the epigenetic silencing of genes during development and cell differentiation.
• DEF8: DEF8 (Differentially Expressed in FDCP 8 Homolog) is a gene involved in endocytic trafficking and cellular signaling. It functions as a scaffold protein, helping coordinate interactions between signaling molecules and endosomes—key for proper receptor function and cell communication. Disruptions in DEF8 activity have been linked to cancer and immune-related conditions.
• SPATA2: SPATA2 (Spermatogenesis Associated 2): SPATA2 is a protein involved in regulating cell death and inflammation through its role in the TNF receptor signaling pathway. It helps recruit key enzymes to signaling complexes, which are essential for activating cell death and inflammatory responses. Research on SPATA2 focuses on understanding its role in spermatogenesis, cell death, and inflammation, with
• SGMS1: SGMS1 (Sphingomyelin Synthase 1): SGMS1 is an enzyme involved in sphingolipid metabolism, which is essential for maintaining cell membrane integrity and signaling. It plays a key role in converting ceramide to sphingomyelin, a process important for cell signaling and apoptosis. Dysregulation of SGMS1 is associated with metabolic and neurodegenerative diseases.
• 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.
• DBX1: DBX1 (Developing Brain Homeobox 1) is a transcription factor that plays a key role in the development of the spinal cord and nervous system. It is essential for guiding the differentiation of neural progenitor cells and ensuring proper formation of neural structures during early development.
• HLA-A: HLA-A (Human Leukocyte Antigen A): HLA-A is a gene that encodes an MHC class I protein responsible for presenting peptide antigens to CD8⁺ T cells. It plays a key role in immune defense against pathogens and tumor cells. Variations in HLA-A can affect susceptibility to infections, autoimmune diseases, and transplant rejection, making it important in immune regulation and a potential target for imm
• REL: REL (REL Proto-Oncogene, NF-KB Subunit): REL is a member of the NF-κB family of transcription factors that regulate immune responses, inflammation, cell growth, and survival. It controls the expression of genes involved in cell proliferation and apoptosis, and its abnormal activity has been linked to inflammatory diseases and certain cancers, especially lymphomas.
• CD96: CD96 (CD96 Molecule): CD96 is a member of the immunoglobulin superfamily involved in immune responses. It plays a role in T-cell adhesion and activation and is considered a potential target in cancer immunotherapy due to its function in tumor immunity.
• TNFSF18: TNFSF18 (TNF Superfamily Member 18): TNFSF18 is a molecule that reflects the regulation of immune responses in the body. Also known as GITR ligand, it binds to GITR on T cells and regulatory T cells, promoting effector T cell activity while suppressing regulatory T cell function. This dual role makes TNFSF18 a key target in cancer immunotherapy and autoimmune disease treatment.
• CSGALNACT1: CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1): CSGALNACT1 is a gene that plays a key role in the biosynthesis of chondroitin sulfate, an essential component of the extracellular matrix in cartilage. It is important for cartilage development and proper joint function, and changes in its activity have been linked to skeletal disorders and joint diseases.
• DDX58: DDX58 (DExD/H-Box Helicase 58), also known as RIG-I, is a protein that acts as a receptor in the innate immune system. It detects viral RNA and helps trigger the body’s early antiviral response by promoting the production of interferons and inflammatory signals. DDX58 is essential for recognizing and fighting many types of RNA viruses.
• 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.
• ATXN1: ATXN1 (Ataxin 1): ATXN1 is a gene that encodes the ataxin-1 protein, which plays a role in neuronal function. Mutations in ATXN1, especially those involving expanded CAG repeats, lead to spinocerebellar ataxia type 1 (SCA1) — a neurodegenerative disorder marked by progressive loss of motor coordination and balance. Studying ATXN1 is important for understanding SCA1 and developing potential treatme
• IL16: IL16 (Interleukin 16): IL16 is a cytokine that acts as a chemoattractant for specific immune cells, helping regulate immune responses and inflammation. It participates in cellular signaling pathways and has been linked to various inflammatory and autoimmune conditions.
• NSMCE1: NSMCE1 (Nonspecific Mitochondrial Enzyme 1): NSMCE1 is a gene that encodes a protein involved in maintaining mitochondrial DNA integrity. It plays a role in the repair and replication of mitochondrial DNA, supporting proper mitochondrial function and energy production in cells.
• MCPH1: MCPH1 (Microcephalin 1): MCPH1 is a gene that plays a key role in brain development, particularly in regulating brain size. It is involved in DNA damage response and cell cycle control. Mutations in MCPH1 can lead to microcephaly, highlighting its important role in neurodevelopment.
• FOXP1: FOXP1
• ADGRG6: ADGRG6 (Adhesion G Protein-Coupled Receptor G6) is a receptor involved in cell adhesion and signal transduction. It plays an important role in key developmental processes, including the myelination of peripheral nerves and the development of the heart. Variations in ADGRG6 have been linked to developmental abnormalities, especially affecting the nervous and cardiovascular systems.
• PAX1: PAX1 (Paired Box 1): PAX1 is a key regulatory gene involved in the development of the spine and thoracic cage. It plays a crucial role in skeletal formation, and mutations in PAX1 can result in congenital spinal and skeletal malformations.
• IL12B: IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a key role in activating the immune system by promoting the production of interferon-gamma (IFN-γ) and stimulating the activity of T cells and natural killer (NK) cells to fight infections and tumors.
• KIF1A: KIF1A (Kinesin Family Member 1A): KIF1A is a neuron-specific motor protein essential for axonal transport, a process critical for proper neuron function and survival. KIF1A plays a key role in neural development and maintenance, and mutations in this protein are linked to neurodegenerative diseases and developmental neurological disorders.
• PPP2R3C: PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): PPP2R3C is a gene that encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex. PP2A is a serine/threonine phosphatase involved in controlling cell growth and division. PPP2R3C modulates PP2A activity, affecting key signaling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its function is
• 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.
• 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.
• ARAP2: ARAP2 (ArfGAP With RhoGAP Domain, Ankyrin Repeat, and PH Domain 2): ARAP2 is a protein that plays a key role in cell signaling by acting as a GTPase-activating protein for Arf and Rho family members. It is important for regulating cell migration and cytoskeletal organization, with potential implications in cancer metastasis and cellular morphology.
• MON1B: MON1B (Mon1 Homolog B): MON1B is a protein that plays a role in intracellular trafficking and autophagy, two essential processes for maintaining cellular homeostasis and responding to stress. It is involved in regulating vesicle transport and has implications in neurodegenerative diseases and metabolic disorders.
• FZD10: FZD10 (Frizzled Class Receptor 10): FZD10 is a receptor that binds Wnt signaling proteins, playing a key role in embryonic development, cell proliferation, and differentiation. It is especially involved in the Wnt/β-catenin signaling pathway and has been linked to cancer development, particularly when Wnt signaling is dysregulated.
• 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.
• ADO: ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes an enzyme responsible for RNA-specific adenosine deamination. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, influencing RNA stability, function, and regulation. ADO plays a key role in RNA editing, contributing to the diversity and functionality of RNA molecules.
• MKNK2: MKNK2 (MAP Kinase Interacting Serine/Threonine Kinase 2): MKNK2 is a gene that encodes a kinase interacting with MAP kinases. It plays a key role in regulating protein synthesis and is involved in multiple cellular processes, including stress responses and inflammation. Dysregulation of MKNK2 has been associated with cancer and other diseases related to abnormal signaling pathways.
• SEMA4B: SEMA4B (Semaphorin 4B): SEMA4B is a gene that encodes an enzyme essential for the biosynthesis of selenoproteins, which contain the amino acid selenocysteine. Predominantly located in the cytoplasm, SEPHS1 plays a key role in selenium metabolism by producing selenophosphate, the activated form of selenium required for selenocysteine incorporation into proteins. Through this activity, SEPHS1 suppor
• GLIS1: GLIS1 (GLIS Family Zinc Finger 1): GLIS1 is a transcription factor that regulates gene expression in various tissues, including the reproductive system and skin. It plays a role in reprogramming somatic cells into pluripotent stem cells, highlighting its potential applications in regenerative medicine.
• SLC45A2: SLC45A2 (Solute Carrier Family 45 Member 2): SLC45A2 is a protein involved in melanin production, acting as a transporter of tyrosine, a key precursor in the melanin biosynthesis pathway. Variants of SLC45A2 contribute to human pigmentation differences, influencing skin, hair, and eye color. Mutations in this gene can cause oculocutaneous albinism type 4, characterized by reduced pigmentation and
• NCF4: NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a component of the NADPH oxidase complex that plays a key role in the body’s immune defense. It helps regulate the assembly and activation of this complex, enabling the production of reactive oxygen species (ROS) during the oxidative burst in phagocytes. This process is essential for destroying engulfed pathogens, and mutations in NCF4 can impair immun
• PDE3A: PDE3A (Phosphodiesterase 3A): PDE3A is an enzyme that helps regulate cyclic nucleotides in the body. It plays a key role in cardiovascular function and lipid metabolism, being important for controlling blood vessel tone and heart contractility. PDE3A inhibitors are commonly used in the treatment of certain cardiovascular diseases.
• PPARGC1B: PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta): PPARGC1B is a coactivator of the PPARγ receptor that plays a key role in energy metabolism. It helps regulate genes involved in energy production, including mitochondrial biogenesis and fatty acid metabolism. This gene is important in metabolic processes and has been associated with conditions such as obesity and diabe
• ETS1: ETS1 (ETS Proto-Oncogene 1, Transcription Factor): ETS1is a key member of the ETS family of transcription factors that regulate gene expression. It plays important roles in controlling immune responses, cell growth, and development. ETS1 is involved in processes such as angiogenesis, lymphocyte formation, and tumor development, and has been linked to several cancers and autoimmune disorders.
• 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.
• SLC26A8: SLC26A8 (Solute Carrier Family 26 Member 8) is a gene that encodes a transporter protein primarily expressed in the testes. It plays a key role in anion transport and is essential for sperm motility and male fertility, contributing to proper sperm function and reproductive health.
• L3MBTL1: L3MBTL1 (Lethal(3) Malignant Brain Tumor-Like 1): L3MBTL1 is a protein involved in chromatin organization and regulation of gene expression. It plays a role in repressing target genes and is of particular interest in cancer research due to its potential function in tumor suppression.
• 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.
• TCB2N: TCB2N (Testis and Ciliary Pathway 2 Neighbor): TCB2N is a gene that is potentially involved in testicular function and ciliary processes. Its name suggests a role in spermatogenesis or ciliary movement. While its exact functions are not fully understood, ongoing research aims to clarify its contributions to human physiology.
• TASP1: TASP1 (Taspase, Threonine Aspartase 1): TASP1 is a gene that encodes a protease responsible for cleaving specific protein substrates. This protease plays a key role in protein processing and regulation, which is essential for maintaining cellular homeostasis. Research on TASP1 aims to understand its substrate specificity and how it influences cellular functions, particularly in cell cycle control
• TPSB2: TPSB2 (Tryptase Beta 2): TPSB2 is a gene that encodes a protein belonging to the serine protease family, specifically a type of tryptase. This protein is primarily found in mast cells and plays a role in allergic responses, inflammation, and immune regulation. Elevated TPSB2 levels are associated with allergic reactions and certain mast cell-related disorders.
• STIM1: STIM1 (Stromal Interaction Molecule 1): STIM1 is a protein that acts as a key regulator of calcium (Ca²⁺) entry into cells. It plays a critical role in calcium signaling and maintaining cellular calcium balance. STIM1 is essential for processes such as muscle contraction, gene expression, and cell growth, and mutations in STIM1 are linked to immune system dysfunction and muscle-related disorders.
• WNT7B: WNT7B (Wnt Family Member 7B) is a gene that plays a key role in the Wnt signaling pathway, which governs crucial cellular processes such as growth, differentiation, and programmed cell death. WNT7B is especially important in embryonic development, bone formation, and blood vessel development. Disruptions in WNT7B signaling have been linked to conditions like cancer, fibrosis, and developmental dis
• PLEKHG1: PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 is a gene that encodes a protein containing pleckstrin homology and RhoGEF domains. These domains suggest the protein plays a role in signaling pathways involved in cell morphology, cytoskeletal organization, and cellular migration. While its precise functions are still under study, PLEKHG1 is believed to contribute to the regu
• D2HGDH: D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a mitochondrial enzyme involved in the metabolism of D-2-hydroxyglutarate, a cellular byproduct. It helps prevent the harmful buildup of this compound. Dysfunction of D2HGDH is linked to D-2-hydroxyglutaric aciduria, a condition associated with symptoms such as developmental delays, epilepsy, and heart problems.
• PTHLH: PTHLH (Parathyroid Hormone Like Hormone): PTHLH is a protein that plays a key role in bone and cartilage development. It acts similarly to parathyroid hormone and is involved in regulating bone remodeling and maintaining calcium homeostasis.
• MDM1: MDM1 (MDM1 Nuclear Protein Homolog): MDM1 (MDM1 Nuclear Protein Homolog) is a gene that encodes a nuclear protein thought to help maintain chromosomal integrity during cell division. It may play a role in DNA repair and the cellular response to DNA damage. While its exact functions are still under investigation, MDM1 is of interest for its potential involvement in cell cycle regulation.
• IL2RA: IL2RA (Interleukin 2 Receptor Alpha): IL2RA, also known as CD25, is part of the receptor complex for interleukin-2, a cytokine essential for T-cell proliferation and differentiation. This receptor plays a key role in regulating the immune response, including the development and function of regulatory T cells that help prevent autoimmune diseases. Dysregulation of IL2RA or its signaling pathway can
• 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.
• FGF10: FGF10 (Fibroblast Growth Factor 10): FGF10 is a protein essential for embryonic development, especially in the formation of limbs and lungs. It plays a key role in the proliferation and differentiation of cells in these tissues. Mutations in FGF10 can result in developmental disorders such as lung aplasia.
• 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.
• 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
• 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.
• SYNDIG1: SYNDIG1 (Synapse Differentiation Inducing 1): SYNDIG1 is a protein involved in the formation and differentiation of synapses in the nervous system. It plays a key role in synaptic plasticity and neuronal communication, both essential for learning and memory.
• HLA-DMA: HLA-DMA (Major Histocompatibility Complex, Class II, DM Alpha): HLA-DMA is a protein involved in the immune system’s antigen presentation pathway. It plays a critical role in regulating peptide loading onto MHC class II molecules, enabling immune cells to effectively present antigens to T cells. This function is essential for initiating immune responses against pathogens and maintaining immune tol
• CHRNB2: CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit) is a gene that encodes a subunit of the nicotinic acetylcholine receptors. These receptors are essential for neuronal signaling and communication in the nervous system. Variations in CHRNB2 have been linked to epilepsy, especially nocturnal frontal lobe epilepsy, highlighting its role in regulating neuronal excitability and synaptic transmissi
• HACD4: HACD4 (Hydroxyacyl-CoA Dehydratase 4): HACD4 is an enzyme involved in the biosynthesis of very long-chain fatty acids (VLCFAs). These fatty acids are essential for maintaining cellular functions such as membrane structure and energy storage. HACD4 plays a key role in lipid metabolism and has been associated with skin development and function.
• 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.
• 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
• DEXI: DEXI (Dexamethasone-Induced Protein) is a gene induced by glucocorticoids such as dexamethasone and is associated with immune regulation and cellular stress responses. While its precise function is still under investigation, DEXI may play a role in modulating immune system activity and inflammation.
• ID2: ID2 (Inhibitor Of DNA Binding 2, HLH Protein): ID2 is a protein that plays a regulatory role by inhibiting the binding of basic helix-loop-helix transcription factors. This inhibition is important for controlling cell differentiation and proliferation. ID2 is involved in key developmental processes such as neurogenesis, immune system development, and cellular senescence, and has also been linked t
• LCE3C: LCE3C (Late Cornified Envelope 3C): LCE3C is a gene that is part of the late cornified envelope gene cluster, involved in forming the cornified envelope in the epidermis. This structure is important for maintaining skin barrier function. Variations in LCE3C have been linked to skin disorders such as psoriasis, highlighting its role in skin integrity and immune responses.
• GPR25: GPR25 (G Protein-Coupled Receptor 25): GPR25 is a receptor belonging to the G protein-coupled receptor family. It is involved in physiological processes such as signal transduction and cell communication. While its precise roles in human health and disease remain under investigation, it is thought to contribute to diverse cellular functions.
• ZNF816: ZNF816 (Zinc Finger Protein 816) is a gene that encodes a member of the zinc finger protein family, known for roles in DNA binding and gene regulation. While the specific function of ZNF816 is not fully defined, zinc finger proteins are key regulators of gene expression, influencing development, cell differentiation, and potential disease pathways such as cancer and genetic disorders.
• SLC45A1: SLC45A1 (Solute Carrier Family 45 Member 1): SLC45A1 is a transporter protein that facilitates the movement of sugars and other molecules across cellular membranes. It contributes to metabolic processes, and its dysfunction can disrupt cellular energy balance and overall metabolism.
• FLG: FLG (Filaggrin) is a gene that encodes a protein essential for maintaining the skin’s protective barrier. Proper FLG function helps retain moisture and shield against environmental irritants. Mutations in FLG are linked to atopic dermatitis (eczema) and can increase susceptibility to other allergic conditions.
• DIAPH3: DIAPH3 (Diaphanous-Related Formin 3) is a gene that encodes a protein involved in regulating the actin cytoskeleton, which is essential for cell shape, movement, and adhesion. It also plays a key role in cell division and has been linked to conditions like auditory neuropathy and disorders affecting cellular motility.
• CAMK1G: CAMK1G (Calcium/Calmodulin-Dependent Protein Kinase IG): CAMK1G is a member of the CaMK kinase family involved in calcium signaling pathways. This kinase is activated by calcium influx and calmodulin binding, triggering the phosphorylation of various proteins that regulate processes such as gene expression, cell cycle progression, and synaptic transmission. CAMK1G plays a key role in neuronal func
• COG6: COG6 (Component Of Oligomeric Golgi Complex 6): COG6 is a key part of the COG complex, which is essential for normal Golgi function and vesicular trafficking. It plays a vital role in maintaining Golgi structure and ensuring proper glycosylation of proteins, a critical post-translational modification. Mutations in COG6 can cause congenital disorders of glycosylation, leading to a variety of clinic
• IFIH1: IFIH1 (Interferon Induced With Helicase C Domain 1): IFIH1, also known as MDA5, is a gene that encodes a protein acting as an intracellular sensor for viral RNA. It plays a key role in innate immunity by detecting viral replication and triggering immune responses. Variations in IFIH1 have been linked to autoimmune conditions such as type I diabetes and systemic lupus erythematosus.
• TNFAIP3: TNFAIP3 (TNF Alpha Induced Protein 3): TNFAIP3, also known as A20, is a key negative regulator of NF-κB signaling, helping control inflammation and immune responses. It works by ubiquitinating signaling molecules to stop NF-κB activation, preventing prolonged inflammation that could lead to autoimmune disease. Mutations or dysregulation of TNFAIP3 are linked to various autoimmune and inflammatory
• ARHGAP21: ARHGAP21 is a gene that encodes a protein responsible for regulating Rho GTPases, a group of proteins essential for controlling the actin cytoskeleton, cell shape, and movement. This protein plays important roles in cellular functions such as intracellular trafficking and cell migration, and it may be associated with neurological disorders.
• SUGCT: SUGCT (Succinyl-CoA:Glutarate-CoA Transferase): SUGCT is an enzyme that plays a key role in the metabolism of glutarate, contributing to the tricarboxylic acid (TCA) cycle. It is essential for energy production and amino acid metabolism. Dysfunction in SUGCT can result in glutaric aciduria type III, a metabolic disorder that impacts energy production.
• BBX: BBX (Bobby Sox Homolog) is a transcriptional regulator that helps control cell proliferation and differentiation. It plays an important role in embryonic development and is involved in regulating circadian rhythms. Proper BBX function is essential for normal development and maintaining regular biological cycles.
• 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.
• 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.
• 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.
• LPP: LPP (LIM Domain Containing Preferred Translocation Partner In Lipoma) is a protein involved in regulating cell adhesion, migration, and the organization of the actin cytoskeleton. It plays a key role in forming focal adhesions and stress fibers, which connect the cytoskeleton to the extracellular matrix. LPP’s function is essential for controlling cell movement and maintaining cellular structure.
• CRIPT: CRIPT (Cysteine-Rich PDZ-Binding Protein): CRIPT is a protein involved in synaptic assembly and function. It binds to a specific PDZ domain, helping localize certain proteins within cells, especially in the nervous system. CRIPT plays an important role in maintaining synaptic stability and supporting neuronal signaling.
• MROH2A: MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A is a protein belonging to a family characterized by maestro heat-like repeats, which are thought to be involved in lipid metabolic processes. While its precise functions remain unclear, MROH2A may contribute to cellular lipid metabolism and could have implications for metabolic disorders. Studying its role may provide insights into metabol
• AUTS2: AUTS2 (Activator Of Transcription And Developmental Regulator AUTS2): AUTS2 is a gene involved in neurodevelopment and linked to autism spectrum disorder and intellectual disability. It plays a role in gene regulation and brain development, with mutations potentially affecting neural growth and function.
• MYO18A: MYO18A (Myosin XVIIIA): MYO18A is a protein that reflects a unique type of myosin in the body. It plays important roles in cytoskeleton organization and cell migration, contributing to muscle development and function. Abnormalities in MYO18A are associated with muscle disorders and may be linked to certain forms of cancer.
• THNSL2: THNSL2 (Threonine Synthase-Like 2): THNSL2 is an enzyme potentially involved in amino acid metabolism, particularly in the synthesis of threonine. Its precise role and significance in human metabolism and disease are not yet fully understood.
• HES6: HES6 (Hes Family BHLH Transcription Factor 6): HES6 is a member of the HES family of transcription factors, which play important roles in regulating developmental processes. HES6 primarily functions in neural differentiation and may inhibit other HES proteins to promote the development of neurons. It has been studied in neurodevelopment, with its dysregulation linked to certain neurological disord
• UPP1: UPP1 (Uridine Phosphorylase 1): UPP1 is an enzyme involved in the pyrimidine salvage pathway, converting uridine into uracil and ribose-1-phosphate. It plays a critical role in nucleotide metabolism, supporting DNA and RNA synthesis and other cellular processes. Its activity is particularly important in chemotherapy, as it influences the activation and effectiveness of certain anticancer drugs.
• ADAMTSL3: ADAMTSL3 (ADAMTS-Like 3) is a gene that encodes a protein belonging to the ADAMTS family, which is involved in organizing the extracellular matrix and regulating cell-matrix interactions. This protein plays a role in maintaining connective tissue structure and has been linked to lung and eye development, as well as certain connective tissue disorders.
• 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
• TJP1: TJP1 (Tight Junction Protein 1): TJP1 is a gene that encodes a protein essential for the formation and maintenance of tight junctions in epithelial and endothelial cells. It plays a key role in cell polarity and barrier function, which are important for tissue integrity. Changes in TJP1 have been linked to diseases such as cancers and disorders involving barrier dysfunction.
• OR7A17: OR7A17 (Olfactory Receptor, Family 7, Subfamily A, Member 17): OR7A17 is a gene that encodes a protein belonging to the olfactory receptor family, which is involved in detecting odor molecules. This large gene family plays a key role in the sense of smell and the complex signaling pathways related to olfaction.
• 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
• RAB11FIP2: RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is a protein involved in intracellular trafficking, specifically in recycling proteins and membranes from the endocytic recycling compartment. It plays a vital role in maintaining cellular homeostasis and ensuring proper membrane traffic, influencing processes such as signal transduction and immune responses.
• LRRC32: LRRC32 (Leucine Rich Repeat Containing 32): LRRC32,also known as GARP, is a protein involved in regulating immune responses, particularly within T-regulatory cells. It plays a key role in maintaining immune tolerance and preventing autoimmune reactions.
• TP63: TP63 (Tumor Protein P63): TP63 is a member of the p53 family of transcription factors that plays a key role in the development and maintenance of epithelial tissues, as well as in cell cycle control and programmed cell death. It is involved in embryonic development, stem cell maintenance, and tumorigenesis. Mutations in TP63 can cause various developmental disorders and have been linked to certain
• CA3: CA3 (Carbonic Anhydrase III): CA3 is an enzyme that plays a key role in regulating pH and ion exchange in the body’s tissues, especially in muscles. It facilitates the rapid conversion of carbon dioxide to bicarbonate and protons, supporting important physiological processes such as respiratory gas transport and maintaining acid-base balance in blood and tissues.
• LRRC3B: LRRC3B (Leucine Rich Repeat Containing 3B): LRRC3B is a gene involved in cell adhesion and communication. It plays a key role in maintaining the integrity of cell-to-cell interactions and signaling, and is recognized for its potential tumor suppressor activity, particularly in gastric cancer.
• STXBP5: STXBP5 (Syntaxin Binding Protein 5): STXBP5 is a protein that plays a key role in regulating neurotransmitter release at synapses. It interacts with components of the SNARE complex, supporting vesicle trafficking and exocytosis. STXBP5 is important for proper synaptic function and has been linked to neurological disorders.
• SATB1: SATB1 (SATB Homeobox 1) is a DNA-binding protein that plays a key role in organizing chromatin structure and regulating gene expression, especially in T cells. It helps shape nuclear architecture by anchoring chromatin loops and controlling genes involved in T cell development and immune function. Changes in SATB1 expression have been linked to immune regulation and various cancers.
• PCNX3: PCNX3 (Pecanex Homolog 3): PCNX3 is a gene that is less well-characterized but is believed to play a role in cellular processes such as protein processing and trafficking. Its exact function in human physiology and pathology is still under investigation.
• DCSTAMP: DCSTAMP (Dendritic Cell-Specific Transmembrane Protein) is a gene that encodes a protein involved in immune function and bone health. It plays a key role in the fusion of cells to form osteoclasts and dendritic cells, which are essential for bone remodeling and immune response. Disruption of DCSTAMP can impact bone density and immune system regulation.
• IFNLR1: IFNLR1 (Interferon Lambda Receptor 1): IFNLR1 is a gene that encodes the receptor for interferon lambda, a type of interferon involved in the immune response to viral infections. It plays a key role in antiviral defense, especially in the respiratory and gastrointestinal tracts. IFNLR1 signaling helps control viral infections while limiting tissue damage caused by inflammation.
• COPB2: COPB2 (Coatomer Protein Complex Subunit Beta 2): COPB2 is a gene that encodes a protein involved in the coatomer complex, which plays a key role in vesicle formation and transport within cells. It is essential for the movement of proteins between the endoplasmic reticulum and the Golgi apparatus.
• C1QTNF6: C1QTNF6 (C1q And TNF Related 6): C1QTNF6 is a member of the C1q/tumor necrosis factor-related protein family, involved in modulating inflammatory responses, adipose tissue metabolism, and cell survival pathways. It plays a role in regulating insulin sensitivity and energy balance. Emerging evidence suggests that C1QTNF6 contributes to metabolic syndromes such as obesity and diabetes, highlighting
• ADAMTS18: ADAMTS18 is a gene that encodes an enzyme involved in the processing of extracellular matrix components. This enzyme plays an important role in tissue development and maintenance. Mutations in ADAMTS18 have been associated with abnormalities in the eyes, skin, and skeleton.
• NUDT12: NUDT12 (Nudix Hydrolase 12): NUDT12 is an enzyme that helps maintain cellular health by hydrolyzing oxidized nucleotides, preventing their incorporation into DNA and RNA. It plays a key role in protecting cells from oxidative damage and in maintaining genomic integrity and cellular redox balance.
• KCNJ3: KCNJ3 (Potassium Voltage-Gated Channel Subfamily J Member 3): KCNJ3, also known as GIRK1 (G protein-activated inwardly rectifying potassium channel 1), is a gene that encodes a protein involved in regulating neuronal excitability and heart rate. By controlling potassium ion flow, KCNJ3 helps stabilize the resting membrane potential and modulate action potentials in neurons and cardiac muscle cells
• IL13: IL13 (Interleukin 13): IL13 is a cytokine that reflects the regulation of immune responses, particularly in allergic inflammation and asthma. It plays a key role in modulating antibody production and controlling inflammatory reactions, especially in allergic diseases and defense against parasitic infections.
• PRDM8: PRDM8 (PR/SET Domain 8): PRDM8 is a transcription factor involved in neurodevelopment, particularly in the differentiation and function of neurons. It plays a role in the development of the central nervous system and has been linked to neural disorders.
• 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.
• 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.
• STAT3: STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a key transcription factor that regulates important cellular functions such as cell growth, differentiation, and programmed cell death (apoptosis). It plays a vital role in the immune response and is closely associated with cancer development, where abnormal STAT3 activity is linked to various cancers and other diseases.
• MMP15: MMP15 (Matrix Metallopeptidase 15): MMP15 is a gene that encodes an enzyme belonging to the matrix metalloproteinase family, which is involved in the breakdown and remodeling of the extracellular matrix (ECM). This enzyme plays a role in physiological processes such as wound healing, angiogenesis, and embryonic development by regulating ECM composition. Proper MMP15 activity is essential for tissu
• KIF2B: KIF2B (Kinesin Family Member 2B): KIF2B is a protein that plays a key role in microtubule dynamics, which are essential for proper chromosome segregation during cell division. As a member of the kinesin motor protein family, KIF2B is important for intracellular transport and cell motility. Dysfunctions in KIF2B can lead to mitotic errors and have potential implications in cancer.
• CEBPA: CEBPA (CCAAT Enhancer Binding Protein Alpha): CEBPA is a transcription factor essential for regulating genes involved in immune and inflammatory responses. It plays a key role in the differentiation of myeloid cells and is important for normal hematopoiesis. Mutations in CEBPA are linked to acute myeloid leukemia.
• PCDH20: PCDH20 (Protocadherin 20): PCDH20 is a member of the protocadherin family, a group of proteins involved in cell-cell adhesion and signaling, especially within the nervous system. PCDH20 plays a key role in neural development and connectivity, supporting the formation and maintenance of neural networks. Dysfunctions in PCDH20 have been linked to neurodevelopmental disorders and may impact cognitive
• TFRC: TFRC (Transferrin Receptor): TFRC is a measure that reflects the activity of a key protein responsible for iron homeostasis in the body. TFRC mediates the uptake of transferrin-bound iron into cells and is essential for erythropoiesis. It is also widely used as a marker of cellular proliferation, with dysregulation linked to conditions such as anemia and cancer.
• PRR5L: PRR5L (Proline Rich 5 Like): PRR5L is a gene associated with the mechanistic target of rapamycin (mTOR) complex, which regulates cell growth, proliferation, and survival in response to nutrients and environmental signals. PRR5L influences mTOR complex 2 (mTORC2) activity, affecting insulin signaling, cytoskeletal organization, and cell survival. Dysregulation of mTOR pathways involving PRR5L is li
• EDAR: EDAR (Ectodysplasin A Receptor) is a receptor that plays a key role in the development of skin appendages such as hair, teeth, and sweat glands. Proper function of EDAR is essential for the formation of these structures, and mutations in this gene can cause ectodermal dysplasias, a group of disorders characterized by abnormal development of these features.
• NDRG2: NDRG2 (N-Myc Downstream Regulated Gene 2): NDRG2 is a gene involved in regulating cell growth and differentiation. It functions as a tumor suppressor and plays a key role in stress responses and the inhibition of cell proliferation. NDRG2 is particularly important for brain and nervous system development, and its dysregulation has been linked to multiple types of cancer.
• TPGS2: TPGS2 (Tocopherol (Alpha) Transfer Protein-Like): TPGS2 is a gene that encodes a protein involved in the metabolism and transport of vitamin E within cells. It contributes to antioxidant defense and cell signaling, and plays a role in maintaining the health of the nervous system and other vitamin E-sensitive pathways.
• 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.
• GAD2: GAD2 (Glutamate Decarboxylase 2): GAD2 is crucial for the synthesis of gamma-aminobutyric acid (GABA), an important neurotransmitter in the brain. It plays a role in the regulation of neuronal excitability and has been implicated in disorders such as epilepsy and anxiety disorders.
• GADL1: GADL1 (Glutamate Decarboxylase Like 1) is a protein related to glutamate decarboxylases, enzymes involved in producing the neurotransmitter GABA. While its exact function is not fully understood, GADL1 is thought to participate in amino acid metabolism and neurotransmitter synthesis. It is studied for its potential role in neurological function and related disorders.
• GZMB: GZMB (Granzyme B): GZMB is a serine protease produced by cytotoxic T lymphocytes and natural killer (NK) cells. It plays a key role in the immune response by inducing apoptosis in virally infected or tumor cells through cleavage of specific intracellular substrates. Proper function of GZMB is essential for effective immune surveillance, and its dysregulation can lead to weakened defense against in
• TYR: TYR (Tyrosinase): TYR is an enzyme that plays a key role in the melanin biosynthesis pathway, responsible for the initial steps of converting tyrosine into melanin pigments. Melanin is essential for the coloration of skin, hair, and eyes, and it provides protection against UV radiation. Mutations in TYR are linked to albinism, a condition marked by reduced or absent melanin, which can lead to visu
• SCFD1: SCFD1 (Sec1 Family Domain Containing 1): SCFD1 is a gene that encodes a protein involved in vesicle trafficking, particularly in the transport of secretory proteins. It plays a role in regulating vesicle docking and fusion, which is essential for proper cellular function and intercellular communication.
• HERC2: HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2): HERC2 is an E3 ubiquitin-protein ligase that plays a key role in the ubiquitin–proteasome system, which regulates protein degradation. It is involved in diverse cellular processes, including DNA repair and pigment production, particularly in determining eye color. Variations in HERC2 are linked to neurodevelopmental disorders an
• MYEOV: MYEOV (Myeloma Overexpressed Gene): MYEOV is a gene that is often overexpressed in multiple myeloma and other cancers. It is thought to contribute to cancer cell proliferation and survival, making it a potential target for cancer therapy.
• SRSF6: SRSF6 (Serine And Arginine Rich Splicing Factor 6): SRSF6is a gene that encodes a protein involved in mRNA splicing, a key process for producing diverse proteins from the genome. It helps regulate alternative splicing, influencing gene expression and protein function. Mutations in SRSF6 have been associated with skin and mucosal disorders.
• ALX4: ALX4 (ALX Homeobox 4): ALX4 is a transcription factor that plays a key role in skull and limb development. Mutations in this gene are linked to craniofacial malformations and skeletal abnormalities, underscoring its importance in bone formation and morphogenesis.
• 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
• TNKS: TNKS (Tankyrase): TNKS is a protein-coding gene that reflects the activity of a poly(ADP-ribose) polymerase involved in several critical cellular processes, including regulation of telomere length, Wnt/β-catenin signaling, and DNA repair. It plays a key role in cell proliferation and survival and has been studied for its potential involvement in cancer therapy due to its influence on tumor growth.
• ASIP: ASIP (Agouti Signaling Protein): ASIP is a protein that influences pigmentation by regulating melanin production in the skin and hair. It acts by blocking melanocortin receptors, which helps determine the type and distribution of melanin. Changes in ASIP expression affect pigmentation patterns, skin cancer risk, and metabolic regulation, highlighting its important roles in both coloration and meta
• STMN3: STMN3 (Stathmin 3): STMN3 is a protein that regulates microtubule dynamics by destabilizing microtubules. This function is essential for processes like cell division, intracellular transport, and cell movement. In neurons, STMN3 plays a role in axonal growth and synaptic function, and its dysregulation may be linked to neurodevelopmental and neurodegenerative disorders.
• TWIST1: TWIST1 (Twist Family BHLH Transcription Factor 1): TWIST1 is a gene that encodes a protein essential for embryonic development, particularly in guiding mesenchymal cell lineage determination. It is involved in craniofacial formation and is associated with Saethre-Chotzen syndrome — a congenital condition marked by craniosynostosis.
• 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.
• ARHGAP27: ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 is a protein that reflects the regulation of actin cytoskeleton dynamics, cell morphology, and motility through its control of Rho GTPases. These GTPases are essential regulators of cellular processes including vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27’s role in modulating cell adhesion and migration is parti
• GRAMD2B: GRAMD2B (GRAM Domain Containing 2B): GRAMD2B is a protein belonging to the GRAM domain family. These proteins are involved in cellular processes such as lipid binding and transport. While the specific functions of GRAMD2B in human physiology are not yet fully understood, GRAM domains are commonly linked to membrane-related activities.
• TREH: TREH (Trehalase): TREH is a gene that encodes the enzyme trehalase, which is involved in breaking down trehalose, a disaccharide sugar. Trehalase plays an important role in carbohydrate metabolism, especially in the gut where trehalose is hydrolyzed. Deficiencies in trehalase activity can cause trehalose intolerance, leading to gastrointestinal symptoms after trehalose consumption.
• 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
• ALG13: ALG13 is a gene that encodes a key subunit of the UDP-N-acetylglucosaminyltransferase complex, which is involved in the early stages of glycosylation. Glycosylation is an essential cellular process where carbohydrates are attached to proteins or lipids, influencing their folding, stability, and function. ALG13 plays a vital role in synthesizing the glycan precursor needed for proper protein glycos
• ABLIM1: ABLIM1 (Actin Binding LIM Protein 1) is a protein that helps organize the actin cytoskeleton — a structural network vital for cell movement, shape, and division. It plays key roles in muscle development and neural function, with disruptions linked to certain muscular and neurological disorders.
• 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.
• WNT10A: WNT10A (Wnt Family Member 10A) is a gene that plays a key role in the Wnt signaling pathway, which is essential for regulating cell growth, development, and tissue formation. It is particularly important in the development of skin, hair, teeth, and bones. Variations or mutations in WNT10A have been linked to several developmental conditions affecting these structures.
• TAFA1: TAFA1 (TAFA Chemokine Like Family Member 1): TAFA1 is a small cytokine-like protein involved in immune regulation and neuronal communication. It belongs to a family of proteins that act as brain-specific chemokines or neurokines, playing important roles in nervous system development and function.
• 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.
• SIK2: SIK2 (Salt-Inducible Kinase 2): SIK2 is a kinase from the AMPK family that helps regulate energy balance in the body. It influences lipid and glucose metabolism and has been linked to conditions such as obesity, diabetes, and cancer-related metabolic changes.
• FARP2: FARP2 (FERM, ARH/RhoGEF, And Pleckstrin Domain Protein 2): FARP2 is a signaling protein that plays a key role in neuronal development and synaptic plasticity. It regulates dendritic spine formation and actin cytoskeleton remodeling by acting as a guanine nucleotide exchange factor for small GTPases. Through these pathways, FARP2 influences neuronal connectivity and function. Changes in FARP2 expre

How to prepare

**24 hours before sample collection** Avoid **alcohol, caffeine, nicotine and intense exercise.** **30 minutes before sample collection** Do not **brush your teeth, drink, eat, smoke or chew gum.** Follow the included instructions carefully before collecting your saliva sample.

Frequently asked questions

Can genetics affect skin aging?

Yes. Genetics may influence pathways related to collagen, elasticity, oxidative stress, inflammation, pigmentation and skin barrier function. Lifestyle and environment also play an important role.

Can this test help with acne or rosacea related concerns?

The test can provide insight into genetic tendencies related to acne and rosacea related pathways, but it does not diagnose a skin condition.

Are the reports available in different languages?

The DNA reports are available in English only.

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

4.8/5 (5)

• 4/5 — The wait for results took a while,, but the detailed insights made it worthwhile for me. Been strugglig with my skin a lot and I really feel like this helped me understand my skin better. :)
• 5/5 — Valuable data for my skincare routine.
• 5/5 — Found the wrinkle and aging markers particularly helpful for choosing new serums.
• 5/5 — Really interesting to see my hydration markers; it explained a lot about my skin type.
• 5/5 — Super easy to do the saliva sample at home and the instructions were clear.