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183 genes
DNA Skin & Beauty Test
Test type
Lab Test
We offer two types of tests; Lab Tests and Rapid Tests. This product is under the category Lab Tests. See all our Lab Tests by following the link.
See allCollection method
Saliva
We offer several different options of testing methods. This test is done with Saliva. See all tests done with Saliva by following the link.
See allGetTested’s DNA Skin & Beauty test analyses genes that influence your skin’s health and provides you with personalised recommendations based on your genetics. The test covers a range of factors from skin aging to specific skin conditions like age spots and sensitivity, to your predisposition to various skin problems such as acne and rosacea.
The sample is easily collected via a saliva test and sent to our lab for analysis. The price includes return shipping to the lab. Within 6-8 weeks, you’ll receive your detailed results digitally.
Save more by bundling DNA tests. Order multiple tests together for better value from our wide range.
- In stock
- At-home test
- Results 6-8 weeks
Get 5% off on 2 Lab tests, and 10% off on 3 Lab tests or more. Cannot be combined with other discounts.
What is analysed in the test?
Skin Hydration
ABLIM1ARAP2ARHGAP21CRIPTFZD10HAPLN1IL34MCPH1MKNK2PLEKHG1TASP1TNKSUPP1
ABLIM1 (Actin Binding LIM Protein 1): ABLIM1 encodes a protein that plays a crucial role in the organization of actin cytoskeleton, which is essential for various cellular functions like movement and division. It's particularly important in muscle development and neural processes. Dysfunctions in ABLIM1 have been linked to muscular and neurological disorders.
ARAP2 (ArfGAP With RhoGAP Domain, Ankyrin Repeat, and PH Domain 2): ARAP2 is involved in cell signaling pathways, acting as a GTPase-activating protein for Arf and Rho family members. It's important for cell migration and cytoskeletal organization, with potential implications in cancer metastasis and cellular morphology.
ARHGAP21 (Rho GTPase Activating Protein 21): This gene encodes a protein involved in the regulation of Rho GTPases, a family of proteins that play a key role in regulating the actin cytoskeleton, cell shape, and motility. ARHGAP21 is implicated in various cellular processes, including intracellular trafficking and cell migration, and has potential links to neurological disorders.
CRIPT (Cysteine-Rich PDZ-Binding Protein): CRIPT is involved in synaptic assembly and function. It encodes a protein that binds to a specific PDZ domain, playing a role in the localization of certain proteins within cells, particularly in the nervous system. Its function is significant for synaptic stability and neuronal signaling.
FZD10 (Frizzled Class Receptor 10): FZD10 is a receptor for Wnt signaling proteins, playing an essential role in embryonic development, cell proliferation, and differentiation. This gene is particularly involved in the Wnt/β-catenin signaling pathway and has been implicated in cancer development, especially in the context of abnormal Wnt signaling.
HAPLN1 (Hyaluronan And Proteoglycan Link Protein 1): HAPLN1 is involved in the binding of hyaluronic acid and proteoglycans in the extracellular matrix. It plays a role in tissue integrity and is associated with cartilage and connective tissue function.
IL34 (Interleukin 34): IL34 is a cytokine involved in the regulation of immune responses. It plays a role in the differentiation and survival of certain types of myeloid cells, including macrophages. Abnormal IL34 expression has been associated with inflammatory diseases, autoimmune disorders, and cancer.
MCPH1 (Microcephalin 1): MCPH1 is crucial for brain development, particularly in regulating brain size. It's involved in DNA damage response and cell cycle regulation. Mutations in this gene can lead to microcephaly, a condition characterized by a smaller than normal brain, demonstrating its vital role in neurodevelopment.
MKNK2 (MAP Kinase Interacting Serine/Threonine Kinase 2): MKNK2 encodes a kinase that interacts with MAP kinases and plays a role in the regulation of protein synthesis. It is involved in various cellular processes, including stress responses and inflammation. Dysregulation of MKNK2 has been linked to cancer and other diseases involving aberrant signaling pathways.
PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 encodes a protein containing pleckstrin homology and RhoGEF domains, implying its participation in signaling pathways associated with cell morphology, cytoskeletal organization, and cellular migration. While its exact functions are still under investigation, the presence of these domains suggests a role in regulating cellular processes related to cytoskeletal dynamics and cellular motility.
TASP1 (Taspase, Threonine Aspartase 1): TASP1 encodes a protease responsible for cleaving specific protein substrates. Its role in protein processing and regulation is crucial for maintaining cellular homeostasis. Research on TASP1 focuses on understanding its substrate specificity and how it contributes to cellular functions, especially in the context of cell cycle control and signaling pathways.
TNKS (Tankyrase): TNKS encodes a poly(ADP-ribose) polymerase that is involved in multiple cellular processes, including regulation of telomere length, Wnt/β-catenin signaling, and DNA repair. It plays a crucial role in cellular proliferation and survival. TNKS has been studied in the context of cancer therapy, given its role in promoting tumor growth.
UPP1 (Uridine Phosphorylase 1): UPP1 is involved in the pyrimidine salvage pathway, converting uridine to uracil and ribose-1-phosphate. It plays a key role in nucleotide metabolism, impacting various cellular processes including DNA and RNA synthesis. Its function is particularly relevant in chemotherapy, as it affects the activation and effectiveness of certain anticancer drugs.
Facial Wrinkles
BBXBMP6CA3DCSTAMPGLIS1HACD4LINGO2LRRC3BMON1BNUDT12RESF1SIK2SYNDIG1TPGS2
BBX (Bobby Sox Homolog): BBX is a transcriptional regulator involved in cell proliferation and differentiation. It plays a crucial role in embryonic development and has been implicated in regulating circadian rhythms. Disruptions in BBX function can lead to developmental abnormalities and impact circadian behavior.
BMP6 (Bone Morphogenetic Protein 6): BMP6 is part of the bone morphogenetic protein family, which is crucial in the development and repair of bone and cartilage. It is involved in various cellular processes including cell growth, apoptosis, and differentiation. BMP6 has been studied in the context of osteogenesis and is also implicated in cancer progression.
CA3 (Carbonic Anhydrase III): CA3 is an enzyme that plays a significant role in pH regulation and ion exchange in tissues, particularly in muscles. It's involved in the rapid conversion of carbon dioxide to bicarbonate and protons, contributing to various physiological processes including respiratory gas transport and acid-base balance in blood and tissues.
DCSTAMP (Dendritic Cell-Specific Transmembrane Protein): DCSTAMP is important in the immune system, specifically in the formation of osteoclasts and dendritic cells. It plays a role in cell fusion and communication, crucial for bone remodeling and immune responses. Its dysfunction can affect bone density and immune system regulation.
GLIS1 (GLIS Family Zinc Finger 1): GLIS1 encodes a transcription factor involved in the regulation of gene expression in the development and function of various tissues, including the reproductive system and skin. It has been implicated in reprogramming somatic cells to pluripotent stem cells, suggesting its potential in regenerative medicine.
HACD4 (Hydroxyacyl-CoA Dehydratase 4): HACD4 is involved in the biosynthesis of very long-chain fatty acids, crucial for the maintenance of cellular functions such as membrane structure and energy storage. It plays a role in lipid metabolism and has been linked to skin development and function.
LINGO2 (Leucine-Rich Repeat And Ig Domain-Containing 2): LINGO2 is a gene associated with neuronal development and function. It may play a role in axon growth and myelination. Dysregulation of LINGO2 has been implicated in neurological disorders, including Parkinson's disease and essential tremor.
LRRC3B (Leucine Rich Repeat Containing 3B): LRRC3B is involved in cell adhesion and communication. It is known for its potential tumor suppressor activity, particularly in gastric cancer. The gene's function is crucial in maintaining the integrity of cell-to-cell interactions and signaling.
MON1B (Mon1 Homolog B): MON1B plays a role in intracellular trafficking and autophagy, processes vital for cellular homeostasis and response to stress. It is involved in the regulation of vesicle transport and has implications in neurodegenerative diseases and metabolic disorders.
NUDT12 (Nudix Hydrolase 12): NUDT12 is an enzyme that hydrolyzes oxidized nucleotides, preventing their incorporation into DNA and RNA, thus protecting cells from oxidative damage. It plays a role in maintaining genomic integrity and cellular redox balance.
RESF1 (Respiratory Factor 1): RESF1 is involved in mitochondrial function and respiratory chain activity. It plays a crucial role in energy production within cells and is important for the maintenance of mitochondrial integrity and function.
SIK2 (Salt-Inducible Kinase 2): SIK2 is part of the AMPK family of kinases and is involved in energy homeostasis. It plays a role in the regulation of lipid and glucose metabolism and has been implicated in obesity, diabetes, and cancer metabolism.
SYNDIG1 (Synapse Differentiation Inducing 1): SYNDIG1 is implicated in the formation and differentiation of synapses in the nervous system. It plays a crucial role in synaptic plasticity and neuronal communication, which are fundamental for learning and memory.
TPGS2 (Tocopherol (Alpha) Transfer Protein-Like): TPGS2 is involved in the metabolism and transport of vitamin E within cells. It plays a role in antioxidant defense and cell signaling, and is important for maintaining the integrity of the nervous system and other vitamin E-sensitive pathways in the body.
Age Spots
PPARGC1BRAB11FIP2
PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta): PPARGC1B is a coactivator of the PPARÎł receptor, playing a significant role in energy metabolism. It is involved in the regulation of genes associated with energy production, such as those involved in mitochondrial biogenesis and fatty acid metabolism. This gene is pivotal in metabolic processes and has been linked to conditions like obesity and diabetes.
RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is involved in intracellular trafficking and plays a key role in the recycling of proteins and membranes from the endocytic recycling compartment. It is important for cellular homeostasis and the proper functioning of membrane traffic systems, with implications in various cellular processes, including signal transduction and immune responses.
Skin Elasticity
ANAPC4CEBPACD96DIAPH3FAM171A1GAD2GRAMD2BIL16KIF2BMYO18ASGMS1STXBP5TFRC
ANAPC4 (Anaphase Promoting Complex Subunit 4): ANAPC4 is a component of the anaphase-promoting complex/cyclosome (APC/C), a key regulator of the cell cycle. It is involved in marking proteins for degradation, thus controlling the progression of cells through the cell cycle. Dysregulation of ANAPC4 can lead to cell cycle abnormalities, with potential implications for cancer development and progression.
CEBPA (CCAAT Enhancer Binding Protein Alpha): CEBPA is a transcription factor crucial for the regulation of 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 associated with acute myeloid leukemia.
CD96 (CD96 Molecule): CD96 is a member of the immunoglobulin superfamily and is involved in immune responses. It plays a role in T-cell adhesion and activation and is a potential target in cancer immunotherapy due to its role in tumor immunity.
DIAPH3 (Diaphanous-Related Formin 3): DIAPH3 regulates the actin cytoskeleton and is involved in cell shape changes, migration, and adhesion. It has a role in cytoplasmic division during cell division and is associated with auditory neuropathy and other disorders involving cellular motility.
FAM171A1 (Family With Sequence Similarity 171 Member A1): FAM171A1 is a protein-coding gene with currently limited characterization, but it is believed to be involved in cellular processes related to protein interaction and signal transduction. Its specific role in human physiology and pathology is still being explored.
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.
GRAMD2B (GRAM Domain Containing 2B): GRAMD2B is part of the GRAM domain family, involved in cellular processes like lipid binding and transport. Its specific functions in human physiology are not fully understood, but such domains are often associated with membrane-related processes.
IL16 (Interleukin 16): IL16 is a cytokine that functions as a chemoattractant for certain immune cells, playing a role in immune responses and inflammation. It is involved in cellular signaling pathways and has been implicated in a variety of inflammatory and autoimmune diseases.
KIF2B (Kinesin Family Member 2B): KIF2B is involved in microtubule dynamics, crucial for chromosome segregation during cell division. It is a member of the kinesin motor protein family, which is important for intracellular transport and cell motility. Dysfunctions in KIF2B can lead to mitotic abnormalities and have implications in cancer.
MYO18A (Myosin XVIIIA): MYO18A is a unique myosin that plays a role in the organization of the cytoskeleton and in cell migration. It is involved in muscle development and function, and its abnormalities are linked to muscle disorders and possibly some forms of cancer.
SGMS1 (Sphingomyelin Synthase 1): SGMS1 is involved in sphingolipid metabolism, which is crucial for cell membrane integrity and signaling. It plays a role in the conversion of ceramide to sphingomyelin, important in cell signaling and apoptosis. Dysregulation of SGMS1 has implications in metabolic and neurodegenerative diseases.
STXBP5 (Syntaxin Binding Protein 5): STXBP5 is involved in the regulation of neurotransmitter release at synapses. It interacts with components of the SNARE complex, playing a critical role in vesicle trafficking and exocytosis. It has implications in neurological disorders and synaptic function.
TFRC (Transferrin Receptor): TFRC is crucial for iron homeostasis, mediating the uptake of transferrin-bound iron into cells. It is essential for erythropoiesis and is widely used as a marker of cellular proliferation. Dysregulation of TFRC is involved in various conditions, including anemia and cancer.
Stretch Marks
ATXN1BNIP5CHRNB2GADL1L3MBTL1SCFD1SLC26A8SRSF6TAFA1TENM4TJP1
ATXN1 (Ataxin 1): ATXN1 encodes a protein called ataxin-1, which is involved in neuronal function. Mutations in this gene, particularly expanded CAG repeats, cause spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disorder characterized by loss of motor coordination and balance. Research into ATXN1 is crucial for understanding and developing treatments for this and similar neurodegenerative diseases.
BNIP5 (BCL2/Adenovirus E1B 19 kDa Interacting Protein 5): BNIP5 is involved in apoptosis and cell survival pathways. It interacts with members of the Bcl-2 family, proteins known for their roles in regulating cell death and survival, making it significant in studies of cancer and cellular stress responses.
CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit): CHRNB2 encodes a subunit of the nicotinic acetylcholine receptors, which are important for neuronal signaling. Mutations in this gene have been associated with epilepsy, particularly nocturnal frontal lobe epilepsy, underscoring its role in neuronal excitability and synaptic transmission.
GADL1 (Glutamate Decarboxylase Like 1): GADL1 is similar to glutamate decarboxylases that synthesize the neurotransmitter GABA, but its specific function is less clear. It may play a role in amino acid metabolism and neurotransmitter synthesis, and is of interest in the study of neurological function and disorders.
L3MBTL1 (Lethal(3) Malignant Brain Tumor-Like 1): L3MBTL1 is thought to be involved in chromatin organization and regulation of gene expression. It has been implicated in the repression of target genes and is of interest in cancer research, particularly in relation to its potential role in tumor suppression.
SCFD1 (Sec1 Family Domain Containing 1): SCFD1 is involved in vesicle trafficking, particularly in the transport of secretory proteins. It plays a role in the regulation of vesicle docking and fusion, which is essential for proper cellular function and communication.
SLC26A8 (Solute Carrier Family 26 Member 8): SLC26A8 is a transporter protein, particularly important in testis for sperm motility and fertility. It is involved in anion transport and is essential for proper sperm function and male fertility.
SRSF6 (Serine And Arginine Rich Splicing Factor 6): SRSF6 is involved in mRNA splicing, a critical process for generating protein diversity from the genome. It plays a role in the regulation of alternative splicing, impacting gene expression and protein function. Mutations in SRSF6 are linked to skin and mucosal disorders.
TAFA1 (TAFA Chemokine Like Family Member 1): TAFA1 is a small cytokine-like protein involved in immune regulation and neuronal communication. It is part of a family of proteins that appear to act as brain-specific chemokines or neurokines and may play roles in nervous system development and function.
TENM4 (Teneurin Transmembrane Protein 4): TENM4 is a member of the teneurin family, involved in neuronal development and function. It plays a role in cell-cell adhesion and communication in the nervous system and has been implicated in developmental processes and neurological disorders.
TJP1 (Tight Junction Protein 1): TJP1 is crucial for the formation and maintenance of tight junctions in epithelial and endothelial cells. It plays a role in cell polarity and barrier formation, important for tissue integrity and function. Alterations in TJP1 are associated with various diseases, including cancers and barrier dysfunction disorders.
Hair Loss
ALX4AUTS2BCL2COPB2FADS2FERD3LPAX1PTHLHRREB1TCF4TWIST1
ALX4 (ALX Homeobox 4): ALX4 is a transcription factor involved in skull and limb development. Mutations in this gene can lead to craniofacial malformations and skeletal abnormalities, highlighting its importance in bone development and morphogenesis.
AUTS2 (Activator Of Transcription And Developmental Regulator AUTS2): AUTS2 is implicated in neurodevelopment and is associated with autism spectrum disorder and intellectual disability. It plays a role in gene regulation and brain development, with mutations affecting neural development and function.
BCL2 (B-Cell Lymphoma 2): BCL2 is a gene that encodes a protein involved in regulating apoptosis, a process of programmed cell death. BCL2 proteins play a crucial role in maintaining the balance between cell survival and cell death. Dysregulation of BCL2 is implicated in cancer and various diseases.
COPB2 (Coatomer Protein Complex Subunit Beta 2): COPB2 is part of the coatomer protein complex involved in vesicle formation and transport within cells. It plays a crucial role in the transport of proteins between the endoplasmic reticulum and the Golgi apparatus.
FADS2 (Fatty Acid Desaturase 2): FADS2 is an enzyme involved in the biosynthesis of polyunsaturated fatty acids, which are essential components of cell membranes and precursors of signaling molecules. Variations in FADS2 can affect the metabolism of essential fatty acids and are linked to metabolic and inflammatory diseases.
FERD3L (Fer3-Like BHLH Transcription Factor): FERD3L is a transcription factor with potential roles in neuronal development and differentiation. Its exact functions are still being elucidated, but it may be involved in neurodevelopmental processes.
PAX1 (Paired Box 1): PAX1 is a key regulatory gene in the development of the spine and thoracic cage. Mutations in PAX1 can lead to congenital spinal and skeletal malformations, emphasizing its role in skeletal development.
PTHLH (Parathyroid Hormone Like Hormone): PTHLH plays a role in bone and cartilage development and is involved in the regulation of bone remodeling. It acts similarly to parathyroid hormone and is important in maintaining calcium homeostasis.
RREB1 (Ras Responsive Element Binding Protein 1): RREB1 encodes a transcription factor that binds to the Ras-responsive element (RRE) and is involved in the regulation of gene expression in response to Ras signaling. It plays a role in cell growth and proliferation.
TCF4 (Transcription Factor 4): TCF4 is a transcription factor that plays an important role in the development of the nervous system. It is involved in neurodevelopmental processes and has been linked to psychiatric disorders, including schizophrenia. TCF4's role in gene regulation is crucial for proper brain development and function.
TWIST1 (Twist Family BHLH Transcription Factor 1): TWIST1 is crucial in embryonic development, particularly in mesenchymal cell lineage determination. It plays a role in craniofacial development and is implicated in Saethre-Chotzen syndrome, a congenital disorder characterized by craniosynostosis.
Hair Graying
IRF4KIF1AMROH2ANSMCE1PRDM8
IRF4 (Interferon Regulatory Factor 4): IRF4 is a transcription factor involved in the immune response, particularly in the regulation of B and T lymphocyte function. It plays a critical role in the differentiation of immune cells and is implicated in various autoimmune and inflammatory diseases, as well as in certain types of leukemia and lymphoma.
KIF1A (Kinesin Family Member 1A): KIF1A is a neuron-specific motor protein essential for axonal transport, which is critical for neuron function and survival. Mutations in KIF1A are associated with neurodegenerative diseases and developmental neurological disorders, reflecting its key role in neural development and maintenance.
MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A belongs to a family of proteins characterized by maestro heat-like repeats, which are thought to be involved in lipid metabolic processes. The exact physiological and pathological roles of MROH2A are not well understood, but it may play a role in cellular lipid metabolism, with potential implications for metabolic disorders. Understanding the function of MROH2A could contribute to insights into metabolic regulation and disease mechanisms related to lipid metabolism.
NSMCE1 (Nonspecific Mitochondrial Enzyme 1): NSMCE1 is involved in the maintenance of mitochondrial DNA integrity. It plays a role in the repair and replication of mitochondrial DNA, which is crucial for proper mitochondrial function and energy production in cells.
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 implicated in neural disorders.
Acne
ADAMTS18DBX1DEXIEDAREDNRAFGF10GPR25H4C13MAP3K1MYEOVPCNX3SEMA4BSLC45A1SUGCTTGFB2TIMP4UPB1WNT10A
ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18): ADAMTS18 encodes an enzyme involved in the processing of extracellular matrix components. Mutations in this gene have been linked to eye, skin, and skeletal abnormalities, reflecting its role in tissue development and maintenance.
DBX1 (Developing Brain Homeobox 1): DBX1 is a transcription factor important in the development of the spinal cord and nervous system. It plays a role in the differentiation of neural progenitor cells and is critical for proper neural development.
DEXI (Dexamethasone-Induced Protein): DEXI is induced by glucocorticoids like dexamethasone and is involved in immune responses and cellular stress reactions. Its exact role is still being elucidated, but it may be involved in the regulation of immune system functions.
EDAR (Ectodysplasin A Receptor): EDAR is a receptor important for the development of skin appendages like hair, teeth, and sweat glands. Mutations in this gene can lead to ectodermal dysplasias, a group of disorders affecting the development of these structures.
EDNRA (Endothelin Receptor Type A): EDNRA is a receptor for endothelins, peptides involved in vasoconstriction and blood pressure regulation. It plays a role in cardiovascular system function and has been implicated in cardiovascular diseases.
FGF10 (Fibroblast Growth Factor 10): FGF10 is critical in embryonic development, particularly in limb and lung development. It's involved in the proliferation and differentiation of cells in these tissues, and mutations can lead to developmental disorders like aplasia of the lung.
GPR25 (G Protein-Coupled Receptor 25): GPR25 is part of the G protein-coupled receptor family and is implicated in various physiological processes, including signal transduction and cell communication. Its specific functions and roles in human health and disease are still under investigation.
H4C13 (Histone Cluster 4, H4C13): H4C13 encodes a component of histone H4, essential for the structure of chromatin in eukaryotic cells. Histones play a key role in the regulation of gene expression and DNA repair and are fundamental to the integrity of genomic DNA.
MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1): MAP3K1 is involved in the MAPK signaling pathway, which regulates various cellular processes, including proliferation, differentiation, and response to stress. Mutations in this gene can lead to developmental disorders and are implicated in various cancers.
MYEOV (Myeloma Overexpressed Gene): MYEOV is often overexpressed in multiple myeloma and other cancers. It's believed to play a role in cancer cell proliferation and survival, making it a potential target for cancer therapy.
PCNX3 (Pecanex Homolog 3): PCNX3 is a less-characterized gene but is thought to be involved in cellular processes like protein processing and trafficking. Its role in human physiology and pathology is still being elucidated.
SEMA4B (Semaphorin 4B): SEMA4B is part of the semaphorin family, which is involved in axonal guidance in the nervous system. It plays a role in neural development and immune responses, and its dysregulation may be involved in neurological and immune disorders.
SLC45A1 (Solute Carrier Family 45 Member 1): SLC45A1 is a transporter protein involved in the transport of sugars and other molecules across cellular membranes. It plays a role in metabolic processes, and its dysfunction can impact cellular energy balance and metabolism.
SUGCT (Succinyl-CoA:Glutarate-CoA Transferase): SUGCT is involved in the metabolism of glutarate, playing a role in the tricarboxylic acid (TCA) cycle. It is important in energy production and amino acid metabolism. Dysfunctions in SUGCT can lead to glutaric aciduria type III, a metabolic disorder affecting energy production.
TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine involved in cell growth, proliferation, differentiation, and apoptosis. It plays a critical role in embryonic development and tissue repair and has been implicated in various diseases, including cancer and fibrotic diseases.
TIMP4 (TIMP Metallopeptidase Inhibitor 4): TIMP4 is involved in the regulation of metalloproteinases, which are enzymes that degrade extracellular matrix components. It plays a role in tissue remodeling and is important in processes like wound healing and angiogenesis.
UPB1 (Beta-Ureidopropionase 1): UPB1 is an enzyme involved in the catabolism of pyrimidines. Deficiencies in UPB1 can lead to beta-ureidopropionase deficiency, a rare disorder affecting the breakdown of nucleotides, leading to neurological symptoms and developmental delay.
WNT10A (Wnt Family Member 10A): WNT10A is involved in the Wnt signaling pathway, crucial for regulating cell fate determination, patterning, and morphogenesis. It plays a significant role in the development of skin, hair, teeth, and bones, with mutations leading to a range of developmental disorders.
Eczema
ADOARHGAP27D2HGDHFLGID2LRRC32MDM1NCF4OVOL1PPP2R3CPRR5LRUNX3SATB1STMN3TNFSF18TREHTRIB1
ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes the adenosine deaminase enzyme, specifically for RNA. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, which can impact RNA stability, function, and regulation. ADO plays a critical role in RNA editing processes that contribute to the diversity and functionality of RNA molecules.
ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 plays a role in actin cytoskeleton remodeling, cell morphology, and motility through its regulation of Rho GTPases. These GTPases are key regulators of cellular processes such as vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27's function in modulating cell adhesion and migration is particularly relevant in tissue development and wound healing, as well as in tumor progression and metastasis.
D2HGDH (D-2-Hydroxyglutarate Dehydrogenase): D2HGDH is a mitochondrial enzyme crucial in the metabolism of D-2-hydroxyglutarate, a byproduct of cellular metabolism. Its role is to prevent the accumulation of D-2-hydroxyglutarate, which can be harmful in high concentrations. Dysregulation of this enzyme leads to D-2-hydroxyglutaric aciduria, characterized by a wide range of clinical symptoms including developmental delay, epilepsy, and cardiomyopathy.
FLG (Filaggrin): FLG encodes a protein crucial for skin barrier function. Mutations in FLG are strongly associated with skin conditions like atopic dermatitis (eczema) and can increase the risk of other allergic diseases.
ID2 (Inhibitor Of DNA Binding 2, HLH Protein): ID2 plays a regulatory role in cell differentiation and proliferation by inhibiting the binding of basic helix-loop-helix transcription factors. This inhibition is crucial in various developmental processes, including neurogenesis, immune system development, and cellular senescence. ID2 has also been implicated in the regulation of cancer cell growth and metastasis.
LRRC32 (Leucine Rich Repeat Containing 32): LRRC32, also known as GARP, is involved in the regulation of immune responses, particularly in T-regulatory cells. It plays a role in maintaining immune tolerance and preventing autoimmune reactions.
MDM1 (MDM1 Nuclear Protein Homolog): MDM1 is a nuclear protein with a speculated role in the regulation of chromosomal integrity during cell division. It may be involved in DNA repair mechanisms or in the response to DNA damage. The precise cellular functions of MDM1 remain a subject of ongoing research, particularly in the context of cell cycle regulation.
NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a component of the NADPH oxidase complex, playing an essential role in the immune defense against pathogens. It participates in the generation of reactive oxygen species in phagocytes, which is crucial for the microbial killing. Mutations in NCF4 have been associated with chronic granulomatous disease, characterized by recurrent bacterial and fungal infections.
OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 encodes a transcriptional repressor that is involved in the regulation of gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and barrier formation.
PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): This gene encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex, which is a serine/threonine phosphatase involved in the control of cell growth and division. PPP2R3C modulates the activity of PP2A, influencing various signaling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its role is critical in maintaining cellular homeostasis and in the regulation of cell cycle checkpoints.
PRR5L (Proline Rich 5 Like): PRR5L is associated with the mechanistic target of rapamycin (mTOR) complex, which regulates cell growth, proliferation, and survival in response to nutrient availability and other environmental cues. PRR5L influences mTOR complex 2 (mTORC2) activity, impacting processes like insulin signaling, cytoskeletal organization, and cell survival. Dysregulation of mTOR signaling pathways, including those involving PRR5L, is implicated in various diseases, including cancer and metabolic disorders.
RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a transcription factor involved in the regulation of gene expression. It plays a role in various cellular processes, including cell differentiation and immune response. Dysregulation of RUNX3 has been associated with cancer and developmental disorders.
SATB1 (SATB Homeobox 1): SATB1 is a DNA-binding protein that regulates chromatin architecture and gene expression, particularly in T lymphocytes. It organizes the nuclear architecture by anchoring chromatin loops and regulates the expression of a large number of genes involved in T cell development and function. Altered SATB1 expression is associated with various cancers and is involved in the regulation of immune responses.
STMN3 (Stathmin 3): STMN3 is a microtubule-destabilizing protein that plays a role in regulating microtubule dynamics, which is essential for processes such as cell division, intracellular transport, and cell motility. In neurons, STMN3 is involved in the regulation of axonal growth and synaptic function, and its dysregulation has implications for neurodevelopmental and neurodegenerative disorders.
TNFSF18 (TNF Superfamily Member 18): Also known as GITR ligand, TNFSF18 is involved in modulating immune responses. It binds to GITR on T cells and regulatory T cells, enhancing the effector T cell response while inhibiting the function of regulatory T cells. This dual role makes TNFSF18 an important target in cancer immunotherapy and in the treatment of autoimmune diseases.
TREH (Trehalase): TREH encodes the enzyme trehalase, which is involved in the hydrolysis of trehalose, a disaccharide sugar. Trehalase is important for carbohydrate metabolism, particularly in the gut where trehalose is broken down. Deficiencies in trehalase activity can lead to trehalose intolerance, characterized by gastrointestinal symptoms following trehalose ingestion.
TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. Tribbles proteins are involved in the regulation of various signaling pathways, including those related to cellular growth, metabolism, and inflammation. TRIB1 has been associated with lipid metabolism, cardiovascular diseases, and cancer. Its intricate roles in these processes are areas of ongoing research.
Hives
AEBP2ADAMTSL3ADGRG6BRAFCBLBCSGALNACT1GCSAMLNDRG2OR7A17OR7A5PDE3APCDH20STIM1TCB2NTHNSL2TPSB2
AEBP2 (Adipocyte Enhancer Binding Protein 2): AEBP2 is a DNA-binding transcription factor involved in adipogenesis and the regulation of gene expression. It plays a role in the differentiation of adipocytes and is also implicated in the epigenetic regulation of genes, particularly as a component of the Polycomb Repressive Complex 2 (PRC2), which is essential for maintaining the transcriptional repression of genes during development and differentiation.
ADAMTSL3 (ADAMTS-Like 3): ADAMTSL3 is part of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family, proteins involved in extracellular matrix organization and cell-matrix interactions. It is implicated in the modulation of connective tissue structure and has been studied in relation to lung and eye development, as well as in certain connective tissue disorders.
ADGRG6 (Adhesion G Protein-Coupled Receptor G6): ADGRG6, also known as GPR126, is a receptor involved in cell adhesion and signal transduction. It plays a critical role in developmental processes such as myelination of peripheral nerves and cardiac development. Mutations in ADGRG6 have been associated with developmental abnormalities, particularly in the nervous and cardiovascular systems.
BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase): BRAF is a key player in the MAPK/ERK signaling pathway, which regulates cell growth, proliferation, and differentiation. Mutations in BRAF are implicated in various cancers, including melanoma, thyroid cancer, and colorectal cancer. BRAF mutations are also involved in certain non-cancerous conditions, such as cardiofaciocutaneous syndrome, which affects the heart, facial features, and skin.
CBLB (C-Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase): CBLB encodes an E3 ubiquitin ligase protein that regulates intracellular signaling pathways by targeting proteins for degradation. It plays a role in immune responses and is involved in negatively regulating T cell activation. Dysregulation of CBLB can lead to autoimmune diseases and immune-related disorders.
CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1): This gene is involved in the biosynthesis of chondroitin sulfate, a key component of the extracellular matrix in cartilage. It plays an important role in cartilage formation and joint function, and alterations in its activity are associated with skeletal disorders and joint diseases.
GCSAML (Germinal Center-Associated Signaling And Motility-Like): GCSAML is a less characterized gene but is believed to be involved in immune cell signaling and motility, particularly in germinal center B cells. Its role may be significant in the development of immune responses and the regulation of B cell activity.
NDRG2 (N-Myc Downstream Regulated Gene 2): NDRG2 is involved in cell growth and differentiation and has been identified as a tumor suppressor gene. It is involved in stress responses and the inhibition of cell proliferation and is particularly noted for its role in brain and nervous system development. Dysregulation of NDRG2 is associated with several types of cancer.
OR7A17 (Olfactory Receptor, Family 7, Subfamily A, Member 17): OR7A17 is a member of the olfactory receptor gene family, which is involved in the detection of odorants. This large gene family plays a key role in the sense of smell and the complex signaling pathways associated with olfaction.
OR7A5 (Olfactory Receptor, Family 7, Subfamily A, Member 5): Similar to OR7A17, OR7A5 is also an olfactory receptor gene. These receptors are G protein-coupled receptors involved in the detection and discrimination of a wide range of odors, playing a crucial role in the sense of smell.
PDE3A (Phosphodiesterase 3A): PDE3A is an enzyme involved in the regulation of cyclic nucleotides, playing a key role in cardiovascular function and lipid metabolism. It is important for the regulation of blood vessel tone and heart contractility. Inhibitors of PDE3A are used in the treatment of certain cardiovascular diseases.
PCDH20 (Protocadherin 20): PCDH20 is a member of the protocadherin family, proteins involved in cell-cell adhesion and signaling, particularly in the nervous system. PCDH20 plays a role in neural development and connectivity, contributing to the formation and maintenance of neural networks. Dysfunctions in PCDH20 have implications for neurodevelopmental disorders and may affect cognitive and sensory processes.
STIM1 (Stromal Interaction Molecule 1): STIM1 is a key regulator of calcium entry into cells, playing a crucial role in calcium signaling and homeostasis. It is important in various cellular processes, including muscle contraction, gene expression, and cell growth. Mutations in STIM1 are associated with immune dysfunction and muscle disorders.
TCB2N (Testis and Ciliary Pathway 2 Neighbor): TCB2N is a less characterized gene, potentially involved in testicular function and ciliary processes. Given its name, it may play a role in spermatogenesis or ciliary movement, but its exact functions and implications in human physiology remain to be elucidated.
THNSL2 (Threonine Synthase-Like 2): THNSL2 is an enzyme potentially involved in amino acid metabolism, specifically in the synthesis of threonine. The exact role and significance of this enzyme in human metabolism and disease are not yet fully understood.
TPSB2 (Tryptase Beta 2): TPSB2 encodes a member of the serine protease family, specifically a type of tryptase. Tryptases are involved in allergic responses and are found in mast cells. They play a role in inflammation and immune response, and elevated levels of tryptase are associated with allergic reactions and certain mast cell-related disorders.
Psoriasis
CAVIN1COG6DDX58ETS1IFIH1IL12BIL13IFNLR1LCE3CPPP2R3CPOU2F3REL2SLC25A2SPATA2STAT3TNFAIP3TNIP1ZNF816
CAVIN1 (Caveolae Associated Protein 1): CAVIN1 is essential for the formation and function of caveolae, small invaginations in the plasma membrane involved in various cellular processes, including endocytosis and signal transduction. It plays a role in lipid metabolism, endothelial function, and mechanoprotection of cells. Mutations in CAVIN1 have been linked to diseases such as lipodystrophy and muscular dystrophies, highlighting its importance in cell structure and metabolism.
COG6 (Component Of Oligomeric Golgi Complex 6): COG6 is part of the COG complex, which is crucial for normal Golgi function and vesicular trafficking. It's involved in the maintenance of Golgi structure and the proper glycosylation of proteins, a critical post-translational modification process. Mutations in COG6 can lead to congenital disorders of glycosylation, which are characterized by a wide range of clinical symptoms, including developmental delay and neurological issues.
DDX58 (DExD/H-Box Helicase 58): DDX58, also known as RIG-I, is a key receptor in the innate immune system that recognizes viral RNA. It plays a pivotal role in the antiviral response by inducing the production of interferons and other inflammatory cytokines upon detection of viral replication. DDX58 is essential for the early immune response to a wide range of RNA viruses.
ETS1 (ETS Proto-Oncogene 1, Transcription Factor): ETS1 is a member of the ETS family of transcription factors, involved in the regulation of various genes, particularly those involved in immune response, cell growth, and development. It plays a role in angiogenesis, lymphocyte development, and tumorigenesis, and has been implicated in various cancers and autoimmune diseases.
IFIH1 (Interferon Induced With Helicase C Domain 1): IFIH1, also known as MDA5, is an intracellular sensor of viral RNA. It plays a critical role in the innate immune defense against RNA viruses by recognizing viral replication and initiating an immune response. Mutations in IFIH1 have been associated with autoimmune disorders such as type I diabetes and systemic lupus erythematosus.
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 critical role in stimulating the immune system's activity against infections and tumors by promoting the production of interferon-gamma (IFN-Îł) and the activation of T cells and natural killer (NK) cells.
IL13 (Interleukin 13): IL13 is a cytokine involved in the regulation of immune responses, particularly in allergic inflammation and asthma. It plays a role in the modulation of antibody production and in the regulation of inflammatory responses, especially in allergic diseases and in the defense against parasitic infections.
IFNLR1 (Interferon Lambda Receptor 1): IFNLR1 is the receptor for interferon lambda, a type of interferon involved in the immune response to viral infections. It plays a role in antiviral defense, particularly in the respiratory and gastrointestinal tracts. IFNLR1 signaling is important for the control of viral infections while minimizing tissue damage due to inflammation.
LCE3C (Late Cornified Envelope 3C): LCE3C is part of the late cornified envelope gene cluster, which plays a role in the formation of the cornified envelope in the epidermis, a structure important for skin barrier function. Variations in this gene have been associated with skin disorders, including psoriasis, reflecting its role in skin integrity and immune response in the skin.
PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): This gene encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex, which is a serine/threonine phosphatase involved in the control of cell growth and division. PPP2R3C modulates the activity of PP2A, influencing various signaling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its role is critical in maintaining cellular homeostasis and in the regulation of cell cycle checkpoints.
POU2F3 (POU Class 2 Homeobox 3): POU2F3 is a transcription factor primarily involved in the differentiation of epithelial cells, especially in the skin and sensory organs. It plays a critical role in the development of tuft cells, a type of chemosensory cell found in the lining of the respiratory and digestive tracts. POU2F3 is also implicated in the development of certain types of squamous cell carcinomas.
REL (REL Proto-Oncogene, NF-KB Subunit): REL is part of the NF-kappaB family of transcription factors, which play a pivotal role in immune and inflammatory responses, as well as in cell growth and survival. REL is involved in the regulation of genes that control cell proliferation and apoptosis, and its dysregulation has been implicated in various inflammatory diseases and cancers, particularly lymphomas.
SLC25A2 (Solute Carrier Family 25 Member 2): SLC25A2 encodes a member of the solute carrier family of mitochondrial transport proteins, specifically involved in the transport of ornithine across the mitochondrial membrane. This process is crucial in the urea cycle and amino acid metabolism. Dysfunctions in this gene can lead to metabolic disorders, highlighting its importance in understanding metabolic pathways and potential therapeutic targets for related diseases.
SPATA2 (Spermatogenesis Associated 2): SPATA2 is involved in the regulation of cell death and inflammation through its role in the TNF receptor signaling pathway. It facilitates the recruitment of key enzymes to signaling complexes, crucial for the activation of cell death and inflammatory responses. Research on SPATA2 is focused on understanding its role in spermatogenesis, cell death, and inflammation, with implications for diseases where these processes are dysregulated.
STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a critical transcription factor involved in various cellular processes, including cell growth, differentiation, and apoptosis. It plays a significant role in the immune response and is heavily implicated in cancer biology, with dysregulation of STAT3 being linked to a variety of cancers and other diseases.
TNFAIP3 (TNF Alpha Induced Protein 3): Also known as A20, TNFAIP3 is a critical negative regulator of NF-kB signaling and plays a pivotal role in controlling inflammation and immune responses. It acts by ubiquitinating signaling molecules to terminate NF-kB activation, thus preventing prolonged inflammatory responses that can lead to autoimmune diseases. Mutations or dysregulation of TNFAIP3 are associated with several autoimmune and inflammatory diseases, making it a key target for therapeutic research.
TNIP1 (TNFAIP3 Interacting Protein 1): TNIP1 works closely with TNFAIP3 to inhibit NF-kB activation and modulate immune responses. It is essential for maintaining immune homeostasis and preventing autoimmunity. Dysregulation of TNIP1 has been linked to various autoimmune conditions, highlighting its importance in immune regulation. Research on TNIP1 focuses on its potential role in the development and treatment of autoimmune diseases.
ZNF816 (Zinc Finger Protein 816): ZNF816 belongs to the family of zinc finger proteins, which are involved in DNA binding and gene transcription regulation. Although specific functions of ZNF816 are less characterized, zinc finger proteins play crucial roles in developmental processes, cellular differentiation, and the regulation of gene expression. Research on ZNF816 and similar proteins aims to uncover their contributions to cellular processes and their potential links to diseases, including cancer and genetic disorders.
Rosacea
ALG13CAMK1GDCAF4HES6HERC2HLA-DMAHLA-DQA1KCNJ3KIAA1109MMP15SLC45A2WNT7B
ALG13 (Asparagine-Linked Glycosylation 13): ALG13 is a gene encoding a subunit of the UDP-N-acetylglucosaminyltransferase complex, involved in the early stages of glycosylation. Glycosylation is a critical post-translational modification process where carbohydrates are attached to proteins or lipids, affecting their folding, stability, and function. ALG13 plays a crucial role in the biosynthesis of the glycan precursor, essential for proper protein glycosylation in the endoplasmic reticulum. Mutations in the ALG13 gene have been linked to congenital disorders of glycosylation, which can result in a wide range of clinical symptoms, including developmental delay, epilepsy, and metabolic abnormalities. This highlights the gene's importance in normal cellular function and its impact on human health when dysregulated.
CAMK1G (Calcium/Calmodulin-Dependent Protein Kinase IG): CAMK1G, also known as calcium/calmodulin-dependent protein kinase IG, is part of the CaMK kinase family that plays pivotal roles in the calcium signaling pathways. These kinases are activated by calcium influx and calmodulin binding, leading to the phosphorylation of various protein targets involved in numerous cellular processes, including gene expression, cell cycle progression, and synaptic transmission. CAMK1G is specifically implicated in the regulation of neuronal function and plasticity, contributing to learning and memory. Dysregulation of CAMK1G activity has been associated with neurological disorders, underlining its importance in maintaining neuronal health and signaling balance.
DCAF4 (DDB1 And CUL4 Associated Factor 4): DCAF4 is a component of the CUL4-DDB1 ubiquitin ligase complex, which plays a crucial role in protein ubiquitination and degradation, a key mechanism for regulating protein levels within cells. This process is vital for maintaining cellular homeostasis and responding to stress. DCAF4 specifically contributes to the selection of substrates for ubiquitination, influencing cell cycle regulation, DNA repair, and signal transduction. Alterations in the function of components like DCAF4 can lead to cellular dysregulation and have been linked to the development of cancer and other diseases, highlighting its role in proteostasis and cellular integrity.
HES6 (Hes Family BHLH Transcription Factor 6): HES6 is a member of the HES family of transcription factors, which are important in the regulation of developmental processes. It acts primarily in neural differentiation and may inhibit the function of other HES proteins to promote neuronal differentiation. HES6 has been studied in the context of neurodevelopment and its dysregulation is implicated in certain neurological disorders.
HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2): HERC2 is an E3 ubiquitin-protein ligase, playing a key role in the ubiquitin-proteasome system, which regulates protein degradation. HERC2 is involved in various cellular processes, including DNA repair and the regulation of pigment production, particularly in eye color determination. Mutations or alterations in HERC2 are associated with neurodevelopmental disorders and pigmentary anomalies.
HLA-DMA (Major Histocompatibility Complex, Class II, DM Alpha): HLA-DMA is a key component of the MHC class II molecule involved in the immune system's antigen presentation process. It plays a crucial role in the regulation of peptide loading onto MHC class II molecules, ensuring that immune cells can present antigens properly to T cells. This process is vital for the immune response to pathogens and the maintenance of immune tolerance. Alterations in HLA-DMA function can affect immune system efficiency and have been associated with various autoimmune diseases, emphasizing its importance in immune regulation and disease susceptibility.
HLA-DQA1 (Human Leukocyte Antigen DQ Alpha 1 Chain): Part of the MHC class II molecule complex, HLA-DQA1 plays a pivotal role in the immune system by presenting peptide antigens to CD4+ T cells. This process is critical for the activation of the adaptive immune response against pathogens. Variations in the HLA-DQA1 gene are associated with susceptibility to several autoimmune diseases, such as type 1 diabetes and celiac disease, reflecting its importance in immune regulation and disease predisposition.
KCNJ3 (Potassium Voltage-Gated Channel Subfamily J Member 3): KCNJ3, also known as GIRK1 (G protein-activated inwardly rectifying potassium channel 1), is involved in regulating neuronal excitability and heart rate. By controlling potassium ion flow, KCNJ3 contributes to the stabilization of the resting membrane potential and the modulation of action potential in neurons and cardiac muscle cells. Dysregulation of KCNJ3 has been implicated in neurological disorders, such as epilepsy and mood disorders, and cardiovascular diseases, highlighting its role in maintaining electrical stability in the brain and heart.
KIAA1109: KIAA1109 is a gene associated with a broad range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its specific function is not fully understood, it is believed to play a role in immune regulation and inflammatory responses. The study of KIAA1109 is significant for understanding the genetic basis of autoimmune disorders and for developing targeted therapies.
MMP15 (Matrix Metallopeptidase 15): MMP15, part of the matrix metalloproteinase family, plays a significant role in the breakdown and remodeling of the extracellular matrix (ECM). This enzyme is involved in various physiological processes, including wound healing, angiogenesis, and embryonic development, by regulating the composition of the ECM. MMP15's activity is critical for tissue repair and remodeling, but its dysregulation can contribute to pathological conditions such as cancer invasion and metastasis, fibrosis, and inflammatory diseases. The precise control of MMP15 activity highlights its importance in maintaining tissue integrity and its potential as a therapeutic target in ECM-related disorders.
SLC45A2 (Solute Carrier Family 45 Member 2): SLC45A2, also known as MATP (Membrane-Associated Transporter Protein), is involved in melanin synthesis as a transporter of tyrosine, a precursor in the melanin biosynthesis pathway. Variants in SLC45A2 are associated with pigmentation diversity in humans, affecting skin, hair, and eye color. Mutations in this gene can lead to oculocutaneous albinism type 4, characterized by reduced pigmentation and visual impairments. SLC45A2's role in pigmentation not only contributes to phenotypic diversity but also has implications for UV radiation protection and vitamin D synthesis.
WNT7B (Wnt Family Member 7B): WNT7B is part of the Wnt signaling pathway, playing a critical role in embryonic development, cell proliferation, and differentiation. This pathway is essential for the regulation of gene expression, cellular architecture, and tissue repair. Aberrant WNT7B signaling has been associated with various pathologies, including developmental disorders, fibrosis, and cancer, particularly in the regulation of tumor growth and metastasis, emphasizing its significance in cellular growth and disease progression.
Vitiligo
ASIPC1QTNF6CD44DEF8FAPFARP2FOXP1GZMBHLA-AIL2RAIRF4LPPPTPRCSH2B3SUOXTYRSERPINB1
ASIP (Agouti Signaling Protein): ASIP regulates melanin synthesis in the skin, influencing pigmentation and the distribution of hair color. By antagonizing melanocortin receptors, ASIP plays a critical role in determining the type of melanin produced in the hair and skin. Variations in ASIP expression are linked to differences in pigmentation patterns, susceptibility to skin cancer, and the regulation of metabolic processes, underlining its role in pigmentation and potential implications for metabolic health.
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 the regulation of insulin sensitivity and energy homeostasis, with emerging evidence suggesting its contribution to metabolic syndromes, including obesity and diabetes. The function of C1QTNF6 in inflammation and metabolism highlights its potential impact on chronic disease development.
CD44 (Cluster of Differentiation 44): CD44 is a cell surface glycoprotein involved in cell adhesion and migration. It plays a role in various cellular processes, including tissue regeneration, lymphocyte activation, and cancer metastasis. CD44 is a key receptor for hyaluronic acid and has implications in inflammation and tissue repair.
DEF8 (Differentially Expressed in FDCP 8 Homolog): DEF8 is involved in endocytic trafficking and signal transduction pathways that regulate cellular growth and differentiation. It acts as a scaffold protein, mediating the interaction between components of signaling pathways and endosomes, which is crucial for the proper distribution and function of cell surface receptors. Dysregulation of DEF8 has been implicated in cancer and immune disorders, emphasizing its role in cellular signaling and membrane trafficking.
FAP (Fibroblast Activation Protein Alpha): FAP encodes an enzyme known as fibroblast activation protein alpha, which is expressed by activated fibroblasts in the tumor microenvironment. It plays a role in tissue remodeling and is a potential therapeutic target in cancer treatment.
FARP2 (FERM, ARH/RhoGEF, And Pleckstrin Domain Protein 2): FARP2 is a signaling protein that influences neuronal development and synaptic plasticity by regulating dendritic spine formation and actin cytoskeleton remodeling. It acts as a guanine nucleotide exchange factor for small GTPases, mediating cell signaling pathways that affect neuronal connectivity and function. Alterations in FARP2 expression or function are associated with neurological disorders, highlighting its significance in brain development and synaptic regulation.
FOXP1
GZMB (Granzyme B): GZMB, or granzyme B, is a serine protease expressed by cytotoxic T lymphocytes and natural killer (NK) cells, playing a pivotal role in the immune response against virally infected cells and tumors. It induces apoptosis in target cells by cleaving specific substrates within the cell, which is crucial for the elimination of infected or malignant cells. Dysregulation or deficiencies in GZMB function can lead to impaired immune surveillance and increased susceptibility to infections and cancer, emphasizing its critical role in immune defense and cellular homeostasis.
HLA-A (Human Leukocyte Antigen A): HLA-A is part of the MHC class I molecules, essential for presenting peptide antigens to the immune system, particularly to CD8+ T cells. It plays a crucial role in the body's defense against pathogens and in tumor surveillance. Variations in HLA-A alleles can influence susceptibility to infectious diseases, autoimmune disorders, and transplant rejection. The specificity of HLA-A in antigen presentation underscores its significance in immune regulation and its potential as a target for immunotherapeutic strategies.
IL2RA (Interleukin 2 Receptor Alpha): IL2RA, also known as CD25, is part of the receptor complex for interleukin-2, a cytokine that plays a central role in T-cell proliferation and differentiation. This receptor is crucial for the regulation of the immune response, including the development and function of regulatory T cells that prevent autoimmune diseases. Dysregulation of IL2RA or its pathway can lead to autoimmune conditions and is a focus for immunotherapy, particularly in cancer and transplant medicine.
IRF4 (Interferon Regulatory Factor 4): IRF4 is a transcription factor involved in the immune response, particularly in the regulation of B and T lymphocyte function. It plays a critical role in the differentiation of immune cells and is implicated in various autoimmune and inflammatory diseases, as well as in certain types of leukemia and lymphoma.
LPP (LIM Domain Containing Preferred Translocation Partner in Lipoma): LPP is involved in cytoskeletal organization and cell adhesion processes. It plays a role in cell migration, proliferation, and differentiation, being implicated in the regulation of gene expression through its interaction with transcription factors. Alterations in the LPP gene have been associated with the development of lipomas and other tumors, indicating its potential role in cancer development and progression.
PTPRC (Protein Tyrosine Phosphatase, Receptor Type C): PTPRC, also known as CD45, is a key regulator in the immune system. It's a transmembrane protein tyrosine phosphatase essential for activating T and B lymphocytes. PTPRC's role in modulating signal transduction pathways makes it crucial for the immune response, and dysregulation can lead to immune disorders.
SH2B3 (SH2B Adaptor Protein 3): SH2B3, also known as LNK, is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a crucial role in maintaining hematopoietic stem cell homeostasis and regulating immune responses. SH2B3 mutations are associated with a variety of hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, underscoring its importance in blood cell development and immune regulation.
SUOX (Sulfite Oxidase): SUOX encodes sulfite oxidase, an enzyme vital for the metabolism of sulfur-containing amino acids. It catalyzes the final step in the degradation of cysteine and methionine, converting sulfite to sulfate, which is excreted in the urine. Deficiencies in SUOX activity lead to sulfite accumulation, resulting in neurological damage and physical abnormalities, a condition known as sulfite oxidase deficiency. This highlights the enzyme's essential role in amino acid metabolism and the prevention of neurotoxicity associated with sulfite accumulation.
TYR (Tyrosinase): TYR is an enzyme crucial in the melanin biosynthesis pathway, responsible for the initial steps of converting tyrosine into melanin pigments. Melanin is essential for coloration in the skin, hair, and eyes, and plays a protective role against UV radiation. Mutations in TYR are associated with albinism, a condition characterized by a deficiency or absence of melanin, leading to visual problems and increased skin cancer risk. TYR's function in pigmentation underscores its importance in protecting against UV-induced damage and in normal visual system development.
SERPINB1 (Serpin Family B Member 1):
SERPINB1, a member of the serpin (serine protease inhibitor) family, plays a crucial role in regulating proteolytic pathways involved in inflammation and immune responses. It primarily inhibits neutrophil elastase and cathepsin G, enzymes released by neutrophils during inflammation, preventing excessive tissue damage. SERPINB1's protective role in maintaining lung tissue integrity is highlighted in conditions like cystic fibrosis and chronic obstructive pulmonary disease (COPD), where its deficiency or dysregulation can lead to enhanced tissue degradation and disease progression. Its function in controlling protease activity underscores its importance in balancing the body's need to fight infection with the need to protect tissue from inflammation-induced damage.
Heavy Sweating
CADM1DLG2FZD8ITGA1KRT72LRRC7LONP2PPP1CBSETD7SLC6A16TLN2TUSC1UBLCP1
CADM1 (Cell Adhesion Molecule 1): CADM1 is a protein-coding gene that plays a crucial role in cell adhesion, a process integral to cellular communication and development. It is known for its involvement in the nervous system and immune responses. Mutations in CADM1 have been associated with various types of cancers and neurological disorders, highlighting its significance in both normal physiology and disease states.
DLG2 (Discs Large Homolog 2): The DLG2 gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family, proteins involved in synaptic assembly and function. It is particularly significant in the nervous system, where it contributes to synaptic plasticity and neuronal signaling. Disruptions in DLG2 have been linked to neurological disorders, emphasizing its role in brain function and development.
FZD8 (Frizzled Class Receptor 8): FZD8 encodes a receptor for Wnt signaling proteins, playing a pivotal role in embryonic development and cell signaling pathways. This gene is essential in various processes including cell differentiation, proliferation, and polarity. Abnormalities in FZD8 signaling are associated with developmental defects and various cancers.
ITGA1 (Integrin Subunit Alpha 1): The ITGA1 gene encodes a protein that is part of the integrin alpha chain family. These proteins are important for cell adhesion and signal transduction, especially in the context of interactions between cells and the extracellular matrix. Mutations in ITGA1 have implications in various pathological conditions, including fibrosis and cancer metastasis.
KRT72 (Keratin 72): KRT72 is a gene encoding a type II keratin, which is a part of the cytoskeletal structure in epithelial cells. It plays a significant role in the structural integrity and function of hair follicles. Mutations in this gene are often associated with hair disorders, reflecting its importance in hair formation and maintenance.
LRRC7 (Leucine Rich Repeat Containing 7): This gene encodes a protein that is thought to be involved in synaptic functions in the brain. Its role is particularly noted in dendritic spines, structures vital for synaptic transmission and plasticity. Alterations in LRRC7 have been linked to neurological conditions, highlighting its importance in brain development and function.
LONP2 (Lon Peptidase 2, Mitochondrial): LONP2 encodes a mitochondrial protease that is crucial for mitochondrial function and maintenance. It helps in the degradation of damaged or misfolded mitochondrial proteins, thus playing a key role in mitochondrial quality control. Impairments in LONP2 function can lead to mitochondrial disorders and contribute to aging-related diseases.
PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB encodes a catalytic subunit of protein phosphatase 1, a key enzyme in the regulation of cellular processes through dephosphorylation. This enzyme plays a vital role in various cellular functions, including muscle contraction, glycogen metabolism, and cell division. Abnormalities in PPP1CB activity are implicated in several diseases, including cardiac disorders and cancer.
SETD7 (SET Domain Containing 7, Lysine Methyltransferase): SETD7 is involved in epigenetic regulation as it encodes an enzyme responsible for methylation of histone proteins. This methylation is crucial for regulating gene expression. Dysregulation of SETD7 activity is associated with various pathological conditions, including cancer and cardiovascular diseases.
SLC6A16 (Solute Carrier Family 6 Member 16): This gene encodes a transporter protein that is part of the solute carrier family. It is particularly important in the transport of amino acids and neurotransmitters in the nervous system. The function of SLC6A16 is critical in maintaining the balance of neurotransmitters, and its dysregulation can be implicated in neurological disorders.
TLN2 (Talin 2): TLN2 encodes the talin 2 protein, which is involved in integrin-mediated signaling pathways and plays a key role in cell adhesion, migration, and signaling. Its importance is underscored in the formation and stabilization of integrin-mediated cell adhesions, with implications in various cellular processes, including immune responses and cancer metastasis.
TUSC1 (Tumor Suppressor Candidate 1): TUSC1 is considered a tumor suppressor gene and is involved in the regulation of cell growth and apoptosis. It has been studied in relation to various cancers, with its reduced expression often observed in malignant tissues, suggesting its protective role against cancer development.
UBLCP1 (Ubiquitin Like Domain Containing CTD Phosphatase 1): UBLCP1 encodes a protein phosphatase that is involved in the regulation of RNA polymerase II, a key enzyme in the transcription process. Its role in the dephosphorylation of the C-terminal domain of RNA polymerase II highlights its significance in the regulation of gene expression, with implications in various cellular processes and diseases.
DNA Skin & Beauty from GetTested
Are you interested in enhancing your skin health and beauty routine in a personalised way? With our DNA Skin & Beauty test, you can take a step closer to achieving beauty tailored just for you.
Who is the Test Suitable For?
The DNA Skin & Beauty test is perfect for anyone looking to optimise their skincare. If you are interested in understanding how your genes affect your skin, this is the test for you. You will receive recommendations in the result report, based on your unique genes.
How Does the Test Work?
You will receive a test kit at home and easily collect a saliva sample at your convenience. Once you have collected your sample, send it back in the prepaid return envelope. After this, it takes 6-8 weeks to receive your results, which are delivered digitally, providing you with a detailed genetic analysis of your skin and beauty genes.
About the Sample Material
The DNA and original sample material are destroyed after analysis and there is no personal connection to the sample except for your unique test ID to which your test results are linked. The information is completely anonymised and the lab has no knowledge of whom it belongs to. We do not give or sell the results to any third party. You also have the option to remove your test results after receiving them.
FAQ
How is the DNA Skin & Beauty test carried out?
Our DNA Skin & Beauty test is a home test kit. After ordering, we will send you a kit with everything you need to collect the saliva sample. Then, simply return your sample to us in the pre-paid envelope.
How quickly will I receive my results?
Once we receive your sample, you can expect to get your results within 6-8 weeks.
When should I take the test?
The test can be collected at any time of the day.
Example Report
Example of DNA Skin & Beauty Test
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