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GetTested’s DNA Skin & Beauty test analyses genes that influence your skin’s health and provides you with personalized 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.

<p>GetTested’s DNA Skin & Beauty test analyses genes that influence your skin’s health and provides you with personalized 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.</p>

DNA Skin & Beauty Test

The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.

<p>The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.</p>

DNA Metabolic Health Test

BCO1 (Beta-Carotene Oxygenase 1): BCO1 is responsible for the conversion of beta-carotene to retinal, a form of vitamin A, which is essential for vision, immune function, and cellular communication. This gene's activity influences how efficiently dietary beta-carotene is converted into vitamin A, impacting vitamin A status and related health outcomes. Variations in BCO1 can affect an individual's response to dietary beta-carotene and risk of vitamin A deficiency....



BCO1

SHLD1 (Shieldin Complex Subunit 1): SHLD1 is a component of the shieldin complex, which plays a key role in DNA repair. It is involved in the repair of double-strand breaks, particularly in non-homologous end joining, a crucial process for maintaining genomic stability and preventing mutagenesis....



SHLD1

XDH, or Xanthine dehydrogenase, is an enzyme that plays a crucial role in purine metabolism, a pathway responsible for the synthesis and degradation of purine nucleotides such as adenine and guanine. XDH catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid, the final product of purine degradation in humans. One of the primary functions of XDH is its involvement in the breakdown of purines to uric acid, a process essential for the elimination of excess purines from the body. Purines are derived from dietary sources and the breakdown of nucleic acids, and their metabolism is tightly regulated to...

CSK (C-Src Tyrosine Kinase): CSK is a key regulatory enzyme that phosphorylates and thereby inhibits Src family tyrosine kinases, crucial components in signaling pathways for cell growth, differentiation, and survival. Dysregulation of CSK activity can lead to aberrant cellular signaling, contributing to the development of cancer and other diseases. Understanding CSK's regulatory mechanisms provides insights into the control of cell signaling and offers potential avenues for therapeutic intervention in diseases driven by tyrosine kinase dysregulation....



BDNF (Brain-Derived Neurotrophic Factor): BDNF is a gene that encodes a protein called brain-derived neurotrophic factor, which is crucial for the survival and growth of neurons in the brain. BDNF plays a key role in synaptic plasticity, learning, and memory. Dysregulation of BDNF has been linked to various neurological and psychiatric disorders....



BDNF

BHMT2 (Betaine-Homocysteine S-Methyltransferase 2) functions similarly to its counterpart, BHMT, in homocysteine metabolism, crucial for cardiovascular and neurological well-being. It assists in converting homocysteine to methionine, albeit less extensively studied than BHMT. This gene's activity impacts homocysteine levels in the body, with potential implications for heart health and neurological conditions. Understanding BHMT2's role could further clarify its contribution to metabolic pathways and disease risk....



BHMT2

ZBTB49 (Zinc Finger and BTB Domain Containing 49): ZBTB49 is a transcription factor that likely plays a role in gene regulation through DNA binding and chromatin remodeling. Members of the ZBTB family are involved in various cellular processes, including proliferation, differentiation, and development. While specific functions of ZBTB49 are not well-characterized, its participation in transcriptional regulation suggests it could impact cell fate decisions and has potential implications for cancer and developmental disorders....

ZBTB49

ACTN3: ACTN3, or Alpha-actinin-3, is a gene that encodes a protein primarily found in fast-twitch muscle fibers. These fibers are crucial for rapid and powerful muscle contractions, commonly associated with explosive athletic performance. Variations in this gene, particularly the R577X polymorphism, have been linked to differing capabilities in sprint and endurance activities, making it a gene of interest in sports genetics....

ACTN3

EPDR1 (Epidermal growth factor receptor pathway substrate 15-related protein 1): Similar to MMP15's role in extracellular matrix (ECM) dynamics, EPDR1 is implicated in cellular signaling pathways that regulate various physiological processes, including cell proliferation, survival, and differentiation. As a member of the epidermal growth factor receptor (EGFR) pathway substrate family, EPDR1 interacts with key signaling molecules involved in growth factor signaling cascades, modulating downstream signaling events. This protein plays a critical role in mediating cellular responses to extracellular stimuli, such as growth factors and cytokines, thereby influencing cell fate decisions and tissue homeostasis. Dysregulation of EPDR1 expression or activity has...

EPDR1

VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like): VWC2L is a less-characterized protein with a von Willebrand factor C domain, typically involved in extracellular matrix interactions and cell adhesion processes. It might play a role in tissue development and integrity, but its specific functions in human physiology and pathology remain to be fully explored....




VWC2L

BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2): BLOC1S2 is part of a protein complex involved in the biogenesis of lysosome-related organelles, such as melanosomes and platelet dense granules. Dysfunctions in BLOC1S2 can affect organelle formation and function, potentially leading to disorders related to pigmentation or blood clotting....



BLOC1S2

CHODL (Chondrolectin): CHODL encodes a protein that may be involved in cell adhesion and chondrocyte differentiation. Its exact function is not fully understood, but it may have roles in cartilage formation and musculoskeletal development....



CHODL

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....

FCRL3 (Fc Receptor-Like 3): FCRL3 is a member of the Fc receptor-like (FCRL) gene family and is primarily expressed in B cells. It is involved in modulating B cell receptor signaling and antibody production. FCRL3 may play a role in regulating immune responses and autoimmune diseases....

FCRL3

EPAS1 (Endothelial PAS Domain Protein 1): Also known as HIF-2alpha, EPAS1 is a transcription factor that responds to low oxygen levels in tissues. It plays a significant role in the physiological adaptation to hypoxia, regulating genes involved in erythropoiesis, iron metabolism, and vascularization. EPAS1 is implicated in high-altitude adaptation and various diseases, including certain cancers....

EPAS1

ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT): ATP5PD is a component of the mitochondrial ATP synthase, playing a role in cellular energy production. It is involved in the synthesis of ATP, the primary energy carrier in cells, and is crucial for maintaining mitochondrial function and overall cellular metabolism....




ATP5PD

SLC7A1 (Solute Carrier Family 7 Member 1): This gene encodes a transporter protein involved in the uptake of amino acids, particularly arginine and lysine. It's important in cell growth and nitric oxide synthesis. SLC7A1's role in immune responses and certain cancers makes it a focus in medical research....



SLC7A1

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit): CHRNB3 is another subunit of the nicotinic acetylcholine receptor, and like CHRNA4, is involved in cholinergic neurotransmission. Genetic variations in CHRNB3 are associated with nicotine dependence and related behavioral traits, highlighting its role in the addictive properties of nicotine and potential influence on neural circuitry involved in addiction....



CHRNB3

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3): IGFBP3 encodes a protein that binds to insulin-like growth factors (IGFs), regulating their bioavailability. This regulation has a profound impact on cell growth, development, and metabolism. IGFBP3 is of particular interest in cancer research, as it can either inhibit or enhance the actions of IGFs, depending on cellular contexts, making it a key player in tumorigenesis and therapeutic strategies....

IGFBP3

ATP5MK (ATP Synthase Membrane Subunit K): ATP5MK is part of the mitochondrial ATP synthase complex, which is crucial for ATP production in cellular respiration. It plays a role in the energy metabolism of cells, and dysfunctions in ATP5MK can affect cellular energy levels, potentially contributing to metabolic disorders....

ATP5MK

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1): ENOX1 is involved in the transfer of electrons across the cell membrane and may play a role in cellular redox homeostasis. Its function is associated with cell growth regulation and the aging process, although its specific role in human physiology and pathology is not fully understood....

ENOX1

B4GALT6, also known as Beta-1,4-galactosyltransferase 6, is a key enzyme involved in the biosynthesis of complex carbohydrates known as glycosaminoglycans (GAGs). Positioned primarily within the Golgi apparatus of cells, B4GALT6 plays a crucial role in catalyzing the transfer of galactose residues from UDP-galactose to acceptor substrates, leading to the formation of specific glycosidic linkages. One of the primary functions of B4GALT6 is its involvement in the biosynthesis of proteoglycans, a class of glycoproteins containing GAG chains. Specifically, B4GALT6 catalyzes the addition of galactose residues to the core protein structure of proteoglycans, initiating the assembly of GAG chains such as chondroitin sulfate...

B4GALT6

WNK1 (WNK Lysine Deficient Protein Kinase 1): WNK1 is a serine/threonine kinase involved in regulating electrolyte balance and blood pressure. It affects sodium and potassium transport in the kidneys, influencing fluid balance and blood pressure. Mutations in WNK1 can lead to hereditary hypertension and electrolyte imbalances, making it a key gene in understanding certain forms of high blood pressure....




WNK1

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....

FADS2

SIVA1 (SIVA1 Apoptosis-Inducing Factor): SIVA1 steps onto the stage as a conductor of cellular destiny, playing a role in the intricate symphony of programmed cell death, known as apoptosis. Its influence extends to the regulation of cell survival and death pathways, holding the balance between life and death within our cells. Researchers delve into the complexities of SIVA1's role in apoptosis, seeking to understand its contributions to cellular fate and disease....



SIVA1

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A): GRIN3A encodes a subunit of the NMDA receptor, a crucial component in synaptic plasticity and learning. As a part of the glutamate receptor family, NMDA receptors play a pivotal role in mediating neuronal communication. Their involvement in synaptic transmission and memory formation underscores their significance in neural function and neurological research....

GRIN3A

DHFR (Dihydrofolate Reductase): DHFR, or dihydrofolate reductase, is a critical enzyme involved in the metabolic pathways that synthesize and repair DNA. It catalyzes the reduction of dihydrofolate to tetrahydrofolate, a cofactor for the synthesis of purines, thymidylate, and several amino acids. This process is essential for cell division and growth. Inhibitors of DHFR, such as methotrexate, are widely used in chemotherapy, as they target rapidly dividing cancer cells by blocking DNA synthesis, highlighting DHFR's crucial role in cellular proliferation and cancer treatment....

DHFR

CXCL5 (C-X-C Motif Chemokine Ligand 5): CXCL5 is a chemokine involved in the recruitment of neutrophils to sites of inflammation and injury. It plays a crucial role in the body's innate immune response, mediating the inflammation process in various conditions, including infectious diseases and chronic inflammatory disorders. CXCL5 has also been studied for its role in cancer progression, particularly in promoting tumor growth and metastasis through the recruitment and activation of neutrophils in the tumor microenvironment....

CXCL5

DAAM2 (Dishevelled Associated Activator Of Morphogenesis 2): DAAM2 is involved in the regulation of cytoskeletal dynamics and cell morphology. It plays a role in processes such as cell migration and tissue morphogenesis....

DAAM2

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2): CYP4V2 is an enzyme involved in fatty acid and lipid metabolism. It plays a role in the biosynthesis of fatty acid epoxides, which have various physiological functions, including in the regulation of blood pressure and inflammation. Mutations in CYP4V2 are associated with Bietti's crystalline dystrophy, a rare genetic eye disorder that affects the retina and can lead to progressive vision loss, highlighting its role in ocular health and lipid processing....

CYP4V2

CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2): CYP4F2 is part of the cytochrome P450 family, involved in metabolizing fatty acids, drugs, and toxins. It plays a role in vitamin K and eicosanoid metabolism, affecting blood clotting and inflammation processes. Genetic variations in CYP4F2 can influence responses to certain medications, especially anticoagulants....

CYP4F2

ADGRL3 (Adhesion G Protein-Coupled Receptor L3): ADGRL3 is a gene encoding a protein that belongs to the adhesion G protein-coupled receptor family, which is known for mediating cell-cell interactions and playing a crucial role in the development and function of the nervous system. It is particularly important in brain development and neuronal signaling. Recent research has linked variations in ADGRL3 to neurological disorders, including attention deficit hyperactivity disorder (ADHD), suggesting its significant influence on neural connectivity and brain function....

ADGRL3

ACP1 (Acid Phosphatase 1, Soluble): ACP1 encodes an enzyme that functions in various cellular processes, including signal transduction and energy metabolism. It has several isoforms with different roles, potentially influencing immune responses and cellular signaling pathways. Variants of ACP1 have been linked to susceptibility to certain autoimmune diseases and metabolic conditions....



ACP1

DLEU7 (Deleted in Lymphocytic Leukemia 7): DLEU7 is a gene that has garnered attention in cancer research, particularly in the context of chronic lymphocytic leukemia. Its name reflects its discovery, where it was found deleted in certain leukemia cases. This gene is thought to play a role in cell cycle regulation and apoptosis, and its deletion or dysfunction may contribute to the development and progression of cancer. Research into DLEU7 offers potential insights into novel therapeutic targets and diagnostic markers for leukemia and possibly other cancers....

DLEU7

ABCG2 (ATP-Binding Cassette Subfamily G Member 2): ABCG2 encodes a protein involved in cellular transport processes. It is a member of the ATP-binding cassette (ABC) transporter family and is responsible for the efflux of various molecules, including drugs and toxins, out of cells. ABCG2 plays a role in drug resistance and the protection of tissues from harmful substances....

ABCG2

ABCC5 (ATP-Binding Cassette Subfamily C Member 5): ABCC5 encodes a transporter protein that belongs to the ATP-binding cassette (ABC) transporter superfamily. This protein is involved in the efflux of various substrates from cells and is often associated with drug resistance in cancer. Understanding the role of ABCC5 is crucial for optimizing chemotherapy regimens and developing targeted therapies....

ABCC5

AADAT, also known as aminoadipate aminotransferase, is a vital enzyme involved in the catabolism of lysine, an essential amino acid. Positioned primarily within the mitochondria of cells, AADAT plays a crucial role in the alpha-aminoadipic semialdehyde (alpha-AASA) pathway, which is responsible for the degradation of lysine. One of the key functions of AADAT is its involvement in the conversion of alpha-aminoadipate semialdehyde (alpha-AASA) to alpha-aminoadipate (AAA), a crucial step in lysine degradation. This enzymatic reaction is essential for the disposal of excess lysine and the generation of intermediates that can be utilized in other metabolic pathways. Moreover, AADAT participates in the synthesis...

AADAT

DTWD2 (DTW Domain Containing 2): DTWD2 is a relatively less characterized gene but is believed to be involved in protein ubiquitination, a process crucial for protein degradation and regulation. It may play a role in cellular protein quality control and has potential implications in various cellular processes, including cell cycle regulation and response to stress....

DTWD2

HP1BP3 (Heterochromatin Protein 1 Binding Protein 3): HP1BP3 interacts with components of heterochromatin, contributing to the regulation of gene expression and chromatin structure. It is involved in the maintenance of genomic stability and DNA repair mechanisms. The role of HP1BP3 in chromatin remodeling and gene silencing has implications for cellular differentiation and the development of diseases, including cancer, where these processes are often altered....

HP1BP3

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....

GADL1

ABCA6 (ATP-Binding Cassette Subfamily A Member 6): ABCA6 is a member of the ATP-binding cassette transporter family and is involved in cellular lipid transport. It plays a role in transporting lipids across cellular membranes and may be associated with lipid metabolism and homeostasis. ...

ABCA6

AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit): AP2A2 is part of the AP-2 adaptor complex, crucial for clathrin-mediated endocytosis. This process is vital for cellular internalization of receptors and other proteins, impacting cell signaling and nutrient uptake. Dysregulation of AP2A2 can affect neuronal development and synaptic function, with potential implications in neurological disorders....

AP2A2

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....

DCAF4

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....

EDAR

C10ORF67 (Chromosome 10 Open Reading Frame 67): Also known as SASP, C10ORF67 is implicated in the regulation of cell proliferation and migration. Although its precise molecular function is not fully understood, it has been associated with the signaling pathways that contribute to cellular senescence and the senescence-associated secretory phenotype (SASP). Its role in these processes suggests potential implications for aging, cancer, and tissue regeneration studies....



C10ORF67

ABCB4 (ATP Binding Cassette Subfamily B Member 4): ABCB4 is a gene encoding a transporter protein involved in the export of phospholipids from liver cells into bile. This gene is critical for maintaining the composition of bile and preventing the buildup of harmful compounds in the liver. Mutations in ABCB4 can lead to liver diseases, including cholelithiasis...

ABCB4

SHISA4 (Shisa Family Member 4): SHISA4 is involved in the regulation of synaptic function and neuronal excitability. It modulates the activity of key receptors in the central nervous system, including AMPA and NMDA receptors, and is implicated in the regulation of neuronal signaling and plasticity. Its role in synaptic modulation makes it a gene of interest in the study of neurological disorders and synaptic dysfunctions....



SHISA4

FFAR4 (Free Fatty Acid Receptor 4): FFAR4, also known as GPR120, is a receptor for omega-3 fatty acids and plays a significant role in metabolic regulation and inflammatory processes. It is involved in the regulation of insulin sensitivity, anti-inflammatory responses, and appetite control. Research suggests that FFAR4 is a potential therapeutic target for metabolic disorders like obesity and type 2 diabetes....

FFAR4

BCL11B (B-Cell CLL/Lymphoma 11B): BCL11B is a transcription factor that plays a critical role in the development and differentiation of T-cells. It is also involved in neuronal development. Mutations or dysregulation in BCL11B have been linked to various types of hematological malignancies, including T-cell acute lymphoblastic leukemia, and to neurodevelopmental disorders....



BCL11B

ETV3 (ETS Variant Transcription Factor 3): ETV3 is part of the ETS family of transcription factors, known for their roles in regulating gene expression involved in cell growth, development, and differentiation. ETV3 acts primarily as a transcriptional repressor and is involved in various biological processes, including immune response regulation....

ETV3

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....



CHRNB2

BTN3A2 (Butyrophilin Subfamily 3 Member A2): BTN3A2 is part of the butyrophilin protein family, which is involved in the regulation of immune responses, particularly in T cell activation and differentiation. This protein plays a role in the modulation of immune surveillance and has been implicated in autoimmune diseases and cancer. Understanding the function of BTN3A2 and its interactions with other immune components is crucial for developing therapies targeting immune regulation....



BTN3A2

PLN (Phospholamban): Phospholamban is a regulatory protein primarily found in cardiac muscle cells, where it plays a crucial role in the regulation of cardiac contractility and relaxation. This small transmembrane protein modulates the activity of the sarcoplasmic reticulum calcium ATPase (SERCA), which is responsible for pumping calcium ions back into the sarcoplasmic reticulum during cardiac relaxation. By inhibiting SERCA at baseline conditions, PLN helps maintain calcium homeostasis and prevents excessive calcium uptake during diastole. However, upon stimulation, PLN is phosphorylated, relieving its inhibitory effect on SERCA and enhancing calcium reuptake, thereby promoting cardiac muscle relaxation and ensuring efficient cardiac function....

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...




ALG13

ARHGAP32 (Rho GTPase Activating Protein 32): ARHGAP32 is involved in the regulation of the Rho family of GTPases, key molecules in controlling cell shape, attachment, and motility. It plays a significant role in the dynamics of the actin cytoskeleton, affecting cellular processes like migration and proliferation. ARHGAP32's function is of interest in the context of neurological development and disorders, as well as in cancer, where cell migration and invasion are critical....

ARHGAP32

FTO (Fat Mass and Obesity-Associated Protein): The FTO gene has garnered significant attention due to its strong association with obesity and body mass index (BMI) in various populations. It's thought to influence metabolic processes like energy homeostasis and fat storage. Research suggests that variations in the FTO gene can affect appetite and energy expenditure, making it a critical gene in understanding and potentially treating obesity....

SPATA2L (Spermatogenesis-associated protein 2-like): SPATA2L is a protein that shares sequence similarity with SPATA2, a known regulator of cell death and inflammation pathways. While the specific function of SPATA2L is still being elucidated, studies suggest its potential involvement in cellular processes such as apoptosis, autophagy, and immune response regulation. SPATA2L may play a role in modulating signaling pathways involved in cell survival and death decisions, similar to its homolog SPATA2. These pathways are critical for maintaining tissue homeostasis and responding to cellular stressors, such as DNA damage or infection. Dysregulation of SPATA2L expression or function could potentially impact these processes, leading...

SPATA2L

EGR2 (Early Growth Response 2): EGR2 is a transcription factor involved in the regulation of neuronal and immune system development. It plays a crucial role in myelination in the peripheral nervous system and is implicated in the control of cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its importance in neural development and function....

EGR2

IGF2 (Insulin-Like Growth Factor 2): IGF2 plays a crucial role in growth and development, particularly during fetal development. It is part of the insulin-like growth factor system, which has significant effects on cell growth, proliferation, and survival. IGF2 is also involved in muscle growth and differentiation and has been linked to various cancers due to its cell proliferation-promoting effects. The regulation of IGF2 is important in understanding growth disorders and potential cancer therapies....

IGF2

BCAT1 (Branched Chain Amino Acid Transaminase 1): BCAT1 is a pivotal enzyme in the metabolism of branched-chain amino acids (BCAAs), which include leucine, isoleucine, and valine. Located primarily in the cytosol of tissues such as the brain and in various tumors, BCAT1 catalyzes the reversible transamination of BCAAs to their corresponding α-keto acids, initiating their catabolic pathway. This enzyme plays an essential role in nitrogen homeostasis and the synthesis of neurotransmitters in the brain, influencing cognitive functions and neurodevelopment. Beyond its metabolic functions, BCAT1 is implicated in the proliferation and metabolism of cancer cells, highlighting its potential as a biomarker...



BCAT1

SFTPA1 (Surfactant Protein A1): SFTPA1 encodes a protein crucial in lung function, particularly in the innate immune response of the respiratory tract. It helps in reducing surface tension in the lungs and plays a role in defending against respiratory pathogens. Mutations in SFTPA1 are associated with respiratory diseases....



SFTPA1

SLC6A2 (Solute Carrier Family 6 Member 2): SLC6A2, also known as the norepinephrine transporter, is responsible for the reuptake of norepinephrine into presynaptic nerve terminals. It is a target for certain antidepressants and plays a role in regulating mood and alertness. Dysfunctions in SLC6A2 are implicated in psychiatric and neurological disorders, including depression and attention deficit hyperactivity disorder (ADHD)....



SLC6A2

SLC2A9 (Solute Carrier Family 2 Member 9): SLC2A9 encodes a transporter protein involved in urate transport in the kidneys. It plays a crucial role in regulating uric acid levels in the blood and is associated with gout susceptibility....



SLC2A9

ARL4C (ADP Ribosylation Factor Like GTPase 4C): ARL4C is a member of the ADP-ribosylation factor family of GTP-binding proteins, involved in cellular signaling and membrane trafficking. It plays a role in cytoskeletal organization and cell motility, and its expression has been linked to the development and progression of certain cancers....

ARL4C

SSBP3 (Single Stranded DNA Binding Protein 3): SSBP3 is involved in DNA repair and replication processes. It binds to single-stranded DNA and may play a role in maintaining genomic stability. Its function is critical in cellular response to DNA damage and has potential implications in cancer biology....

SSBP3

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....



UNCX (Unc-4 Homeobox): UNCX encodes a homeobox-containing transcription factor involved in neuronal development and axon guidance. It plays a role in specifying neuronal identity and connectivity in the developing nervous system....




UNCX

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....

DBX1

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....

ANAPC4

BTBD7 (BTB Domain Containing 7): BTBD7 plays a key role in regulating epithelial-mesenchymal transition (EMT), a critical process in embryonic development, wound healing, and tumor metastasis. It functions by modulating the cytoskeletal architecture, thereby influencing cell shape, migration, and invasion. Dysregulation of BTBD7 has been linked to fibrosis and cancer progression, underlining its importance in tissue remodeling and its potential as a target for therapeutic intervention in fibrotic diseases and metastatic cancers....



BTBD7

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N): PIGN is involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, which are used to attach certain proteins to the cell membrane. GPI-anchored proteins play critical roles in cell adhesion, signal transduction, and immune response. Mutations in PIGN can lead to GPI anchor biosynthesis disorders, characterized by a wide range of symptoms including developmental delays, neurological issues, and congenital anomalies, reflecting the importance of GPI-anchored proteins in human physiology....

PIGN

ADAM15 (A Disintegrin and Metalloproteinase 15): ADAM15 is a member of the ADAM protein family, which are involved in cell adhesion, migration, and proteolysis of extracellular matrix proteins. ADAM15 may play a role in cell signaling and tissue remodeling....


ADAM15

ARL4A (ADP-Ribosylation Factor-Like 4A): ARL4A is a member of the ADP-ribosylation factor (ARF) family of small GTPases. It participates in intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in the regulation of membrane remodeling processes, including vesicle formation and membrane fusion events....

ARL4A

CSF3R (Colony Stimulating Factor 3 Receptor): CSF3R is the receptor for colony-stimulating factor 3 (CSF3), a cytokine that controls the production, differentiation, and function of granulocytes. The interaction of CSF3 with its receptor is crucial for the survival and activation of neutrophils, essential components of the innate immune response. Mutations or overexpression of CSF3R can lead to disorders of granulocyte function and proliferation, including chronic neutrophilic leukemia and severe congenital neutropenias, highlighting its role in hematopoiesis and immune defense....



CSF3R

ATP2B4 (ATPase Plasma Membrane Ca2+ Transporting 4): ATP2B4 encodes a calcium pump responsible for the removal of calcium from cells. It plays a key role in intracellular calcium homeostasis, affecting muscle contraction, cell signaling, and neuronal activity. Dysregulation of ATP2B4 is implicated in cardiovascular diseases....

ATP2B4

DCDC2B (Doublecortin Domain Containing 2B): DCDC2B is a member of the doublecortin family, which is involved in neuronal migration and cortical development. Proteins in this family are characterized by doublecortin domains that bind to microtubules, influencing neuronal cell movement and the proper formation of the cerebral cortex. Mutations or dysregulation in DCDC2B may be linked to neurological disorders and developmental abnormalities, highlighting its importance in brain development and function....

DCDC2B

DAP (Death-Associated Protein): DAP is involved in the regulation of cell death, a critical process in development and disease. It plays a role in apoptosis, the programmed cell death mechanism, which is essential for maintaining cellular health and preventing cancer. Understanding the function of DAP is key in studying cell life cycle and in developing therapies for diseases where cell death regulation is disrupted....

DNAJB4 (DnaJ Heat Shock Protein Family (Hsp40) Member B4): DNAJB4 is a co-chaperone that assists in protein folding, degradation, and assembly. It helps in managing cellular stress responses, particularly in response to heat shock. DNAJB4 is important in maintaining cellular homeostasis and protecting cells from stress-induced damage....

DNAJB4

MMUT (Methylmalonyl-CoA mutase): MMUT is a critical enzyme involved in the metabolism of branched-chain amino acids and fatty acids. Specifically, MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an essential step in the breakdown of certain amino acids and lipids for energy production. This process occurs within the mitochondria, where MMUT helps maintain cellular energy balance and provides substrates for the citric acid cycle. Deficiencies in MMUT activity, often due to mutations in the MMUT gene, can lead to methylmalonic acidemia (MMA), a rare inherited metabolic disorder characterized by the accumulation of methylmalonic acid and its metabolites in the body. MMA...



MMUT

DLG5 (Discs Large Homolog 5): DLG5 is a member of the Discs Large (DLG) protein family and is involved in the organization of cellular structures and signal transduction at cell junctions. It plays a role in maintaining epithelial cell integrity and may have implications in inflammatory bowel diseases (IBD) such as Crohn's disease....

DLG5

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....



SLC26A8

UNC119B (UNC-119 Homolog B): UNC119B is involved in the trafficking of proteins to cilia, cellular structures important in signaling pathways and sensory functions. It plays a role in the development and function of photoreceptor cells in the retina. Dysfunctions in UNC119B can impact ciliary function, potentially leading to retinal diseases and impairing vision....

UNC119B

CTDSPL2 (CTD Small Phosphatase Like 2): CTDSPL2 is implicated in the regulation of transcriptional and post-transcriptional processes through its role in RNA polymerase II dephosphorylation. It may influence gene expression, cell cycle progression, and differentiation. While its specific functions are still being elucidated, CTDSPL2's activity is important for understanding cellular growth control and its dysregulation in diseases such as cancer....

CTDSPL2

IGF1R (Insulin-like Growth Factor 1 Receptor): IGF1R encodes a receptor critical for responding to insulin-like growth factors (IGFs). Its central role in growth and development is well-established. IGF1R influences various cellular processes, including growth, survival, and metabolism regulation. Dysregulation of this receptor has been implicated in several diseases, making it a subject of interest in both developmental biology and clinical medicine....

IGF1R

GPSM1 (G Protein Signaling Modulator 1): GPSM1 is involved in modulating G protein signaling, crucial for various cellular responses to external stimuli. It plays a role in cell polarization and directional movement, and has been studied in the context of cancer, particularly in relation to its potential role in tumor cell migration and invasion....

GPSM1

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....

ADGRG6

AGMO (Alkylglycerol Monooxygenase): AGMO is an enzyme involved in lipid metabolism, specifically in the oxygenation of ether lipids. It plays a role in the metabolism of bioactive lipids, which are important for cell signaling and inflammation. Dysregulation of AGMO may impact lipid-related disorders and inflammatory conditions....

AGMO

KCTD9 (Potassium Channel Tetramerization Domain Containing 9): KCTD9 is a gene associated with a domain involved in protein-protein interactions and the assembly of protein complexes. It may play a role in the formation or regulation of protein complexes related to ion channel function or other cellular processes....

KCTD9

CYP19A1, also known as aromatase, is an enzyme that catalyzes the conversion of androgens (such as testosterone) into estrogens (such as estradiol). This process is crucial in the biosynthesis of estrogen, which plays essential roles in various physiological processes, including sexual development, reproduction, bone metabolism, and cardiovascular health. One of the primary functions of CYP19A1 is its role in the synthesis of estrogen from androgens. It is expressed in various tissues, including the ovaries, testes, placenta, adipose tissue, and brain. In females, CYP19A1 is primarily responsible for estrogen production in the ovaries, where it converts androgens produced by the adrenal glands...

CYP19A1

ACAN (Aggrecan): ACAN is a gene that encodes aggrecan, a large proteoglycan found in the extracellular matrix of cartilage and other connective tissues. It plays a critical role in maintaining the structural integrity of cartilage and is essential for joint function. Mutations in ACAN can lead to skeletal disorders such as spondyloepimetaphyseal dysplasia, which affects bone and cartilage development....

ACAN

DIO3, also known as Type 3 Deiodinase, is a crucial enzyme involved in the regulation of thyroid hormone activity. Positioned primarily within various tissues, including the liver, brain, and placenta, DIO3 plays a pivotal role in controlling thyroid hormone levels and mediating tissue-specific responses to thyroid hormones. One of the key functions of DIO3 is its ability to catalyze the inactivation of thyroid hormones, particularly thyroxine (T4), by converting it into an inactive metabolite known as reverse triiodothyronine (rT3). This enzymatic activity helps fine-tune thyroid hormone signaling by reducing the availability of active thyroid hormones in target tissues, thereby modulating metabolic...

DIO3

GDPD5 (Glycerophosphodiester Phosphodiesterase Domain Containing 5): GDPD5 is involved in lipid metabolism, specifically in the hydrolysis of glycerophosphodiesters to glycerol phosphate and alcohol. This enzymatic activity is important for the degradation of cellular membrane components and the regulation of intracellular signaling molecules. Understanding the function of GDPD5 contributes to our knowledge of lipid signaling pathways and their implications in metabolic and cardiovascular diseases....

GDPD5

XKR9 (X-Kell Blood Group Precursor-Related Family Member 9): XKR9 is a member of the X-Kell blood group precursor-related family. Its specific functions and implications are areas of ongoing research....

XKR9

DIPK2A (Divergent Protein Kinase Domain 2A): DIPK2A is a lesser-known gene with limited information available. It may be involved in kinase activity, impacting cellular signaling pathways....

DIPK2A

GAREM2 (GRB2 Associated Regulator of MAPK1 Subtype 2): GAREM2 is involved in the regulation of the MAPK/ERK signaling pathway, which is critical for cell proliferation, differentiation, and survival. It plays a role in mediating cellular responses to external stimuli, including growth factors and stress. Understanding GAREM2 is important for its implications in cancer biology, as the MAPK/ERK pathway is often dysregulated in various cancers....

GAREM2

FOXK1 (Forkhead Box K1): FOXK1 is a member of the forkhead box (FOX) family of transcription factors, characterized by a distinct DNA-binding forkhead box. FOXK1 plays a pivotal role in regulating gene expression involved in cell growth, proliferation, differentiation, and longevity. Its significance is particularly noted in muscle development and regeneration, as well as in the regulation of metabolic processes. The activity of FOXK1 has been linked to various pathological conditions, including cancer, making it a gene of interest in both developmental biology and disease research....

FOXK1

DOCK9 (Dedicator of Cytokinesis 9): DOCK9 is a gene that encodes a guanine nucleotide exchange factor (GEF) protein. GEFs play a vital role in regulating the activity of Rho family GTPases, which are central to cellular processes like cytoskeletal dynamics and cell migration. DOCK9's functions are related to cell morphology, adhesion, and migration, making it relevant in developmental biology and cancer metastasis....

DOCK9

DMBX1 (Diencephalon/Mesencephalon Homeobox 1): DMBX1 is a homeobox gene implicated in early brain development, particularly in the diencephalon and mesencephalon regions. Its role is crucial in the formation and differentiation of various brain structures. Alterations in DMBX1 expression or function may have implications in developmental brain disorders....

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