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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

GRINA (Glia Derived Nexin): GRINA is a protein that reflects a key component of the central nervous system, particularly involved in neuroprotection and the regulation of neuronal excitability. It interacts with NMDA (N-methyl-D-aspartate) receptors, which are essential for synaptic plasticity, memory formation, and learning. GRINA’s function is linked to its ability to modulate these receptors, influencing neurodevelopment and neural response mechanisms. Dysregulation of GRINA has been associated with neurological disorders such as Alzheimer's disease, epilepsy, and schizophrenia.

GRINA

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP is a protein that reflects the balance and regulation of key cellular processes. Also known as ALIX, it is involved in endocytosis, membrane repair, and cell death pathways. PDCD6IP plays a critical role in multivesicular body formation and the budding of enveloped viruses, such as HIV. Dysfunctions in PDCD6IP are associated with neurodegenerative diseases and cancer, underscoring its importance in autophagy, apoptosis, and overall cellular homeostasis.

PDCD6IP

PDE8B (Phosphodiesterase 8B): PDE8B is a gene that encodes the phosphodiesterase 8B enzyme. Like PDE10A, it helps regulate cyclic nucleotide signaling, though its roles can differ across tissues and cell types. PDE8B may influence a variety of physiological processes.

PDE8B

INPPL1 (Inositol Polyphosphate Phosphatase-Like 1): INPPL1,also known as SHIP2 (Src Homology 2 domain-containing Inositol Phosphatase 2), is an enzyme that plays a key role in regulating phosphoinositide signaling pathways in the body. These pathways are essential for controlling cellular processes such as proliferation, survival, and migration. INPPL1 specifically removes a phosphate group from the 5' position of phosphatidylinositol 3,4,5-trisphosphate (PIP3), acting as a negative regulator of the PI3K (phosphoinositide 3-kinase) signaling pathway. Its activity is important for modulating insulin signaling and maintaining glucose balance, making it a significant factor in metabolic regulation and a potential therapeutic target.

INPPL1

POU5F2 (POU Class 5 Homeobox 2): POU5F2 is a transcription factor that belongs to the POU family, a group of proteins known for their roles in developmental processes and cell type–specific gene expression. While the specific functions of POU5F2 are not fully characterized, it may play a role in regulating gene expression in certain developmental or cellular contexts.

POU5F2

ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is a protein that reflects the body’s mechanisms for extracellular matrix stabilization and inflammation regulation. It plays an important role in tissue remodeling and repair, and dysregulation of ITIH1 has been associated with various inflammatory conditions and may contribute to cancer development.

ITIH1

CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1): CSGALNACT1 is a gene that plays a key role in the biosynthesis of chondroitin sulfate, an essential component of the extracellular matrix in cartilage. It is important for cartilage development and proper joint function, and changes in its activity have been linked to skeletal disorders and joint diseases.


CSGALNACT1

PMM1 (Phosphomannomutase 1): PMM1 is an enzyme in the mannose pathway, playing a key role in glycosylation — a process essential for the proper function and stability of many proteins. Mutations in PMM1 can result in congenital disorders of glycosylation, impacting multiple systems, including neurological and immune functions.




PMM1

IL4R (Interleukin 4 Receptor): IL4R is a receptor for the cytokine interleukin 4 (IL4), which plays a key role in the differentiation of naive T cells into Th2 cells. IL4R signaling is essential for promoting B cell proliferation, antibody production, and the regulation of allergic responses, including IgE production. Dysregulation of this pathway has been linked to asthma, atopic dermatitis, and other allergic conditions, making IL4R an important target for therapeutic intervention.

IL4R

JAG1 (Jagged 1): JAG1 is a key ligand in the Notch signaling pathway, involved in regulating cell fate and tissue development. Mutations in JAG1 can cause Alagille syndrome, a disorder affecting the liver, heart, and other organs. Through its role in Notch signaling, JAG1 also contributes to processes such as vascular development, blood cell formation, and cancer progression.

JAG1

IL34 (Interleukin 34): IL34 is a cytokine that plays a key role in regulating immune responses. It is involved in the differentiation and survival of specific myeloid cells, including macrophages. Abnormal levels of IL34 have been linked to inflammatory conditions, autoimmune disorders, and cancer.

IL34

STARD3 (StAR-Related Lipid Transfer Domain Containing 3): STARD3 is a protein that plays a key role in cholesterol trafficking and homeostasis within cells. It facilitates the movement of cholesterol between endosomes and the plasma membrane or endoplasmic reticulum. As a member of the START domain family, STARD3 is essential for sterol and lipid transport. Changes in its function can influence cellular cholesterol distribution, affecting membrane composition, signaling pathways, and potentially contributing to atherosclerosis.



STARD3

KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is a protein that interacts with potassium channels, influencing their activity. It plays important roles in cellular functions such as signal transduction and ion transport. Mutations in KCTD1 have been associated with developmental disorders, particularly affecting skin and hair.

KCTD1

GNAQ (G Protein Subunit Alpha Q): GNAQ is a subunit of G proteins that plays a key role in transmitting signals from the cell surface to the interior. Mutations in GNAQ have been associated with certain tumors, including uveal melanoma, as well as Sturge-Weber syndrome, a disorder affecting the skin and nervous system.

GNAQ

MDGA1 (MAM Domain Containing Glycosylphosphatidylinositol Anchor 1): MDGA1 is a protein involved in neural development and cell adhesion. It plays a key role in axon guidance and contributes to neural connectivity and synaptic function.



MDGA1

PDIA5 (Protein Disulfide Isomerase Family A, Member 5): PDIA5 is a protein that plays a key role in the folding and maturation of other proteins within the endoplasmic reticulum. It assists in the formation and rearrangement of disulfide bonds, which are essential for proper protein structure and stability. Proper PDIA5 function is critical for protein quality control, and its dysregulation has been linked to protein misfolding diseases, including diabetes and neurodegenerative disorders.

PDIA5

ACKR1 (Atypical Chemokine Receptor 1): ACKR1 is a receptor that reflects the body’s regulation of chemokine activity. Formerly known as DARC (Duffy Antigen Receptor for Chemokines), ACKR1 acts as a decoy receptor, binding chemokines without triggering intracellular signaling. By sequestering chemokines, it helps modulate immune responses and control inflammation, protecting tissues from excessive damage. Variations in ACKR1 are linked to differences in infection susceptibility and the severity of inflammatory diseases.

ACKR1

ZNF516 (Zinc Finger Protein 516): ZNF516 is a KRAB zinc finger protein, indicating a role in DNA binding and transcriptional regulation. It is involved in the regulation of cardiac genes and has been studied in relation to cardiovascular diseases. Dysregulation of ZNF516 may affect heart development and function, with potential implications for heart disease and heart failure.




ZNF516

PRG4 (Proteoglycan 4): PRG4 is a protein, also known as lubricin, that plays a vital role in joint health by maintaining lubrication and cartilage integrity. It helps reduce friction in joints and protects cartilage surfaces from wear and damage. Mutations or deficiencies in PRG4 can contribute to joint disorders such as camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome and are associated with the development of osteoarthritis.

PRG4

MSRA (Methionine Sulfoxide Reductase A): MSRA is an enzyme that helps protect cells from oxidative stress by repairing oxidatively damaged proteins. It reduces methionine sulfoxide back to methionine, supporting protein function and overall cellular health. Its antioxidant activity is important for healthy aging and may play a role in preventing diseases linked to oxidative damage, including neurodegenerative disorders.



MSRA

JCAD (Junctional Cadherin 5 Associated): JCAD is a protein that plays a key role in cell adhesion and vascular development. It is important for endothelial cell function and maintaining vascular integrity. Alterations in JCAD have been linked to cardiovascular diseases and may also influence tumor angiogenesis, highlighting its significance in both cardiovascular research and oncology.

JCAD

UPP1 (Uridine Phosphorylase 1): UPP1 is an enzyme involved in the pyrimidine salvage pathway, converting uridine into uracil and ribose-1-phosphate. It plays a critical role in nucleotide metabolism, supporting DNA and RNA synthesis and other cellular processes. Its activity is particularly important in chemotherapy, as it influences the activation and effectiveness of certain anticancer drugs.

UPP1

STIM1 (Stromal Interaction Molecule 1): STIM1 is a protein that acts as a key regulator of calcium (Ca²⁺) entry into cells. It plays a critical role in calcium signaling and maintaining cellular calcium balance. STIM1 is essential for processes such as muscle contraction, gene expression, and cell growth, and mutations in STIM1 are linked to immune system dysfunction and muscle-related disorders.


STIM1

NCLN (Nicalin): NCLN is a component of the nicalin-NOMO (nodal modulator) complex, which is involved in key cellular processes, including signaling pathways that regulate embryonic development and organ formation. While its precise functions are still being studied, NCLN is believed to help modulate pathways such as Nodal signaling, which is critical for developmental patterning. Its role within this complex suggests potential involvement in developmental disorders and diseases associated with dysregulated signaling pathways.

NCLN

GPR158 (G Protein-Coupled Receptor 158): GPR158 is a member of the G protein-coupled receptor (GPCR) family and plays a role in various physiological processes, including neuronal development and the regulation of mood and behavior. It has been associated with mental health conditions such as depression and anxiety, highlighting its significance in brain function and emotional regulation.

GPR158

MDFIC2: MDFIC2 is a gene that is not extensively studied but is believed to play a role in muscle development and differentiation. It may contribute to the regulation of myogenic factors, which are essential for muscle cell growth, repair, and regeneration. Understanding MDFIC2’s function could provide valuable insights into muscle development disorders and muscle regeneration processes.


MDFIC2

MORC4 (MORC Family CW-Type Zinc Finger 4): MORC4 is a gene involved in chromatin remodeling and the regulation of gene expression. It plays important roles in cellular processes such as DNA repair and apoptosis. Mutations or dysfunctions in MORC4 may be associated with various cancers and developmental disorders, making it a key focus in research on gene regulation and cancer biology.



MORC4

NUDT9 (Nudix Hydrolase 9): NUDT9 is a gene that encodes a member of the Nudix hydrolase family. Proteins in this family are involved in the hydrolysis of nucleoside diphosphate derivatives. While the specific substrates and functions of NUDT9 are still being studied, it plays a role in nucleotide metabolism and cellular homeostasis.



NUDT9

NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2): NR2F2 is a transcription factor, also known as COUP-TFII, that plays a key role in the development and function of multiple organs, including the heart and vascular system. It regulates genes involved in angiogenesis (formation of new blood vessels) and metabolic processes. Abnormal NR2F2 activity is associated with developmental disorders and certain cancers, where it can affect tumor growth and metastasis.



NR2F2

PIP5KL1 (Phosphatidylinositol-4-Phosphate 5-Kinase-Like 1): PIP5KL1 is a gene that encodes an enzyme involved in phosphoinositide metabolism. This enzyme catalyzes the conversion of phosphatidylinositol 4-phosphate (PI4P) to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), a critical signaling molecule that regulates cellular processes such as membrane trafficking and cytoskeletal organization.




PIP5KL1

CLGN (Calmegin): CLGN is a protein involved in sperm-egg fusion during fertilization. It functions in the endoplasmic reticulum of the testis and is essential for male fertility. Mutations in CLGN can impair sperm development and function, potentially leading to infertility.



CLGN

TSLP (Thymic Stromal Lymphopoietin): TSLP is a cytokine that plays a key role in initiating allergic inflammation and regulating immune responses at the epithelial barrier. It acts on dendritic cells, promoting a Th2-biased immune response, which is central to the development of allergic diseases such as asthma, atopic dermatitis, and eosinophilic esophagitis. Research on TSLP focuses on its potential as a therapeutic target, with insights into its mechanisms offering opportunities for innovative treatments of these conditions.

TSLP

KANSL1, also known as KAT8 Regulatory NSL Complex Subunit 1, is a protein that plays a key role in chromatin regulation and gene expression. It is a component of the Non-Specific Lethal (NSL) histone acetyltransferase (HAT) complex, which acetylates histone proteins, particularly histone H4 at lysine 16 (H4K16ac), a modification linked to transcriptional activation and chromatin remodeling. KANSL1 contributes to the regulation of gene expression by modifying chromatin structure, with the NSL complex targeting specific genomic regions to promote an open chromatin state and facilitate transcription.

KANSL1

BMP6 (Bone Morphogenetic Protein 6): BMP6 is a member of the bone morphogenetic protein (BMP) family, which plays a key role in the development and repair of bone and cartilage. It is involved in essential cellular processes such as cell growth, apoptosis, and differentiation. BMP6 has been studied for its role in osteogenesis and is also associated with cancer progression.



BMP6

PDSS1 (Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1): PDSS1 is a protein involved in the production of coenzyme Q10, a vital molecule in the mitochondrial electron transport chain. It plays an essential role in cellular energy generation and antioxidant defense. Dysfunction of PDSS1 can result in coenzyme Q10 deficiency, which may contribute to various neuromuscular and neurodegenerative disorders.




PDSS1

PIK3AP1 (Phosphoinositide-3-Kinase Adaptor Protein 1): PIK3AP1 is a protein that plays a key role in the PI3K signaling pathway. This pathway is essential for various cellular processes such as cell growth, proliferation, and survival. PIK3AP1’s involvement in immune cell signaling makes it important in research related to immunity, inflammation, and cancer biology.



PIK3AP1

PITX2 (Paired Like Homeodomain 2): PITX2 is a transcription factor that plays a crucial role in the development of multiple organ systems, including the eyes, heart, and abdominal organs. It is involved in establishing the body’s left-right asymmetry. Mutations in PITX2 are linked to Axenfeld-Rieger syndrome, a condition that affects the eyes and other organs. Understanding PITX2 is important for developmental biology and for exploring treatments for related congenital disorders.




PITX2

NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38 is a component of the N-terminal acetyltransferase complex responsible for catalyzing the transfer of acetyl groups to the N-terminus of proteins. This modification influences protein stability, localization, and function. Although the precise biological roles and substrate specificity of NAA38 are not yet fully understood, N-terminal acetylation is a common and important post-translational modification. Studying NAA38 and similar enzymes helps reveal regulatory mechanisms of protein function and the impact of protein acetylation on cellular processes and disease.

NAA38

FCER1G (Fc Epsilon Receptor I Gamma): FCER1G is a key component of the high-affinity receptor for the Fc region of immunoglobulin E (IgE). It plays a vital role in allergic responses by contributing to the activation of mast cells and basophils. Changes in this gene can affect the severity and susceptibility to allergic diseases and asthma.

FCER1G

IL18R1 (Interleukin 18 Receptor 1): IL18R1 is a protein that acts as a receptor for interleukin 18 (IL-18), a cytokine involved in inflammation and immune defense. IL18R1 plays a key role in the immune response by enabling the activation of natural killer cells and specific T-cells, which are essential for fighting infection and injury. Changes in the IL18R1 gene can affect susceptibility to inflammatory and autoimmune diseases, underscoring its role in regulating immune and inflammatory processes.

IL18R1

CNTN5 (Contactin 5): CNTN5 is a member of the contactin family, involved in the development of the nervous system, especially in the formation of neural connections. It plays a key role in neuronal development and function. Mutations in CNTN5 have been associated with neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities.



CNTN5

PFKP (Phosphofructokinase, Platelet): PFKP is a key enzyme in the glycolytic pathway that regulates the rate of glucose metabolism. It catalyzes the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Proper regulation of PFKP is essential for cellular energy production, and its dysregulation has been studied in cancer, where altered glucose metabolism is commonly observed.

PFKP

CLEC12A (C-Type Lectin Domain Family 12 Member A): CLEC12A encodes a protein that belongs to the C-type lectin-like receptor family. It plays an important role in the immune system by participating in cell signaling pathways that regulate immune responses, especially in myeloid cells. CLEC12A has been studied extensively for its involvement in inflammation and leukemia.



CLEC12A

SETBP1 (SET Binding Protein 1): SETBP1 is a protein that interacts with SET, a key regulator of histone acetylation and chromatin remodeling. SETBP1 is involved in gene regulation and has been linked to developmental disorders and leukemia.

SETBP1

PHYHIPL (Phytanoyl-CoA 2-Hydroxylase Interacting Protein-Like): PHYHIPL is a protein linked to the peroxisomal degradation pathway, particularly in the metabolism of branched-chain fatty acids and bile acid intermediates. It plays a role in lipid metabolism and maintaining cellular lipid balance. Although its precise functions are still being clarified, PHYHIPL may be involved in metabolic disorders related to impaired lipid processing.

PHYHIPL

PKD2L1 (Polycystic Kidney Disease 2-Like 1): PKD2L1 is a transmembrane protein of the polycystic kidney disease family, mainly found in sensory neurons of the peripheral nervous system and certain epithelial cells. It plays an essential role in chemosensation and mechanosensation, especially in detecting sour taste. Acting as a non-selective cation channel, PKD2L1 enables ion influx in response to extracellular stimuli, triggering cellular responses. It is also involved in processes such as gastrointestinal sensory signaling and blood pressure regulation.




PKD2L1

CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a key role in the development and function of the nervous system. It is involved in the formation of neural circuits and synaptic connections. Variations or mutations in CNTN2 have been associated with neurodevelopmental disorders and may impact neurological processes such as learning and memory.


CNTN2

MORC2 (Microrchidia 2): MORC2 is a gene that encodes a member of the MORC family of proteins. These proteins are involved in epigenetic regulation, DNA damage repair, and transcriptional control. MORC2 plays diverse roles that can influence multiple cellular processes.


MORC2

POU2F3 (POU Class 2 Homeobox 3): POU2F3 is a transcription factor that regulates the differentiation of epithelial cells, particularly in the skin and sensory organs. It is essential for the formation of tuft cells — specialized chemosensory cells in the respiratory and digestive tracts — and is also associated with the development of certain squamous cell carcinomas.

POU2F3

CPXM1 (Carboxypeptidase X, M14 Family Member 1): CPXM1 is a protein that belongs to the metallo-carboxypeptidase family and is involved in extracellular matrix remodeling. It contributes to cell adhesion, migration, and key physiological processes such as wound healing and inflammation. Dysregulation of CPXM1 may be linked to tissue remodeling disorders and certain cancers.



CPXM1

GLIS1 (GLIS Family Zinc Finger 1): GLIS1 is a transcription factor that regulates gene expression in various tissues, including the reproductive system and skin. It plays a role in reprogramming somatic cells into pluripotent stem cells, highlighting its potential applications in regenerative medicine.

GLIS1

LRRC4C (Leucine Rich Repeat Containing 4C): LRRC4C is a protein, also known as NGL-1, that plays a role in neural development, particularly in the formation and regulation of synaptic connections. It has been studied for its potential involvement in neurodevelopmental disorders.

LRRC4C

PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a key growth factor involved in cell signaling and tissue repair. As part of the platelet-derived growth factor (PDGF) family, it plays an essential role in promoting cell proliferation, migration, wound healing, tissue remodeling, and the formation of new blood vessels (angiogenesis).

PDGFB

BNIP5 (BCL2/Adenovirus E1B 19 kDa Interacting Protein 5): BNIP5 is a protein involved in regulating apoptosis and cell survival. It interacts with members of the Bcl-2 family — key proteins that control cell death and survival — and plays an important role in research on cancer development and cellular stress responses.



BNIP5

KLF14 (Krüppel-Like Factor 14): KLF14 is a transcription factor from the Krüppel-like factor family that regulates gene expression linked to key cellular processes. It plays an important role in metabolic regulation, particularly in adipocyte differentiation and lipid metabolism, affecting how the body stores and uses fats. KLF14 also contributes to glucose balance and insulin sensitivity, with dysregulation linked to metabolic disorders such as obesity and type 2 diabetes.

KLF14

GPR25 (G Protein-Coupled Receptor 25): GPR25 is a receptor belonging to the G protein-coupled receptor family. It is involved in physiological processes such as signal transduction and cell communication. While its precise roles in human health and disease remain under investigation, it is thought to contribute to diverse cellular functions.

GPR25

PFKL (Phosphofructokinase, Liver Type): PFKL is an enzyme that plays a key role in glycolysis — the metabolic pathway that converts glucose into energy. It is essential for glucose metabolism and energy production, particularly in the liver, where it supports glucose utilization and storage.

PFKL

INAVA (Innate Immune Signal Activator): INAVA is a gene involved in regulating the NF-kappaB signaling pathway, a key driver of the body’s innate immune responses. It plays an important role in activating immune cells and promoting the production of inflammatory mediators, helping the body defend against pathogens and manage inflammation.

INAVA

TSPAN3 (Tetraspanin 3): TSPAN3 is a protein that belongs to the tetraspanin family, which is involved in cell adhesion, signaling, and membrane organization. It plays roles in processes such as immune cell activation and the spread of cancer cells (metastasis).

TSPAN3

GPR139 is a G protein-coupled receptor (GPCR) predominantly expressed in the central nervous system, especially in regions involved in regulating neurotransmitter systems and neuronal activity. It is thought to modulate neurotransmission, particularly dopamine and glutamate signaling, and may act as an inhibitory receptor by lowering cAMP levels and reducing neuronal excitability.

GPR139

CATSPER2 (Cation Channel, Sperm Associated 2): CATSPER2 is a protein that forms part of a calcium channel in sperm, essential for sperm motility and fertility. It plays a critical role in enabling the hyperactivated movement required for successful fertilization. Mutations in CATSPER2 can impair sperm function, leading to male infertility. Research on CATSPER2 provides valuable insights into reproductive health, as well as potential targets for contraception and infertility treatments.


CATSPER2

TMC5 (Transmembrane Channel Like 5): TMC5 is a protein belonging to the TMC family, a group thought to function as ion channels or transporters. While its precise role remains unclear, TMC5 may play a part in sensory perception or maintaining cellular balance. Research is ongoing to understand its function and potential relevance to health and disease.



TMC5

PKP4 (Plakophilin 4): PKP4 is a protein that supports cell–cell adhesion, particularly within desmosomes — specialized structures that link neighboring cells. It helps maintain tissue integrity, especially in areas exposed to mechanical stress. Mutations in PKP4 can disrupt this function, contributing to certain skin and cardiac disorders.




PKP4

HLA-DQA2 (Human Leukocyte Antigen DQ Alpha 2): HLA-DQA2 is a gene within the HLA complex that plays a key role in immune system regulation through antigen presentation. It encodes an alpha chain that pairs with a beta chain to form the HLA-DQ molecule, which presents foreign antigens to T cells to trigger immune responses. Variations in HLA-DQA2 are linked to susceptibility to certain autoimmune diseases, highlighting its importance in immune tolerance and autoimmunity.

HLA-DQA2

PFKM (Phosphofructokinase, Muscle): PFKM is a gene that encodes an enzyme essential for glycolysis and glucose metabolism in muscle tissue. It plays a key role in generating energy during physical activity and muscle contraction, making it critical for optimal muscle performance and function.

PFKM

SYNDIG1 (Synapse Differentiation Inducing 1): SYNDIG1 is a protein involved in the formation and differentiation of synapses in the nervous system. It plays a key role in synaptic plasticity and neuronal communication, both essential for learning and memory.



SYNDIG1

COQ5 (Coenzyme Q5 Homolog, Methyltransferase): COQ5 (Coenzyme Q5 Homolog, Methyltransferase) is an enzyme involved in the biosynthesis of coenzyme Q (CoQ), a vital molecule for mitochondrial energy production. It catalyzes a crucial methylation step in the CoQ pathway. Mutations in COQ5 can cause CoQ deficiency, impacting mitochondrial function and contributing to energy metabolism disorders.



COQ5

SLC1A7 (Solute Carrier Family 1 Member 7): SLC1A7 is a high-affinity glutamate transporter that helps clear glutamate from the synaptic cleft. This process is essential for preventing excitotoxicity — a harmful condition caused by excessive glutamate leading to neuronal damage. Although less researched than other glutamate transporters, SLC1A7 plays a role in regulating glutamatergic signaling and may be relevant to neurological disorders linked to disrupted glutamate neurotransmission.



SLC1A7

NBR1 (Neighbor Of BRCA1 Gene 1): NBR1 is a multifunctional autophagy receptor that regulates selective autophagy — the targeted degradation and recycling of cellular components. It helps remove ubiquitinated protein aggregates and damaged organelles, supporting cellular homeostasis and protection against stress. Its role in autophagy is closely tied to disease prevention, including neurodegenerative disorders, cancer, and age-related conditions, highlighting its importance in cellular health and longevity.

NBR1

CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is a component of the CCR4-NOT complex, which regulates gene expression by controlling mRNA turnover and degradation. It is involved in multiple aspects of RNA metabolism and can impact key cellular processes such as development, differentiation, and stress response.



CNOT2

MLKL (Mixed Lineage Kinase Domain-Like): MLKL is a protein that plays a central role in necroptosis, a regulated form of programmed cell death. It is involved in mediating inflammatory responses and has been linked to various conditions, including neurodegenerative diseases, ischemic injury, and viral infections.

MLKL

CRHR1 (Corticotropin-Releasing Hormone Receptor 1): CRHR1 is a receptor for corticotropin-releasing hormone, a key regulator of the body’s stress response. It plays a central role in the hypothalamic-pituitary-adrenal (HPA) axis, influencing stress regulation, mood, and behavior. Dysregulation of CRHR1 has been linked to psychiatric conditions such as depression and anxiety.


CRHR1

CAVIN1 (Caveolae Associated Protein 1): CAVIN1 is a key protein required for the formation and function of caveolae — small plasma membrane invaginations involved in processes such as endocytosis and signal transduction. It supports lipid metabolism, endothelial health, and cellular mechanoprotection. Mutations in CAVIN1 are associated with conditions like lipodystrophy and muscular dystrophies, underscoring its role in cell structure and metabolism.


CAVIN1

GPR83 (G Protein-Coupled Receptor 83): GPR83 (G Protein-Coupled Receptor 83) is a receptor found in the brain that belongs to the G protein-coupled receptor (GPCR) family. It plays a role in regulating appetite and maintaining energy balance, and has been studied for its involvement in feeding behavior and metabolic disorders.

GPR83

LRRC4 (Leucine Rich Repeat Containing 4): LRRC4 (Leucine Rich Repeat Containing 4) is a protein primarily expressed in the brain and involved in neural development. It plays a role in nervous system formation, maintenance, and neural cell adhesion and signaling. LRRC4 has been studied in relation to brain tumors, especially gliomas, making it a key focus in neurobiology and cancer research.

LRRC4

OLIG1 (Oligodendrocyte Transcription Factor 1): OLIG1 is a transcription factor that regulates the development and maturation of oligodendrocytes — the cells responsible for producing myelin in the central nervous system. It plays a vital role in myelination, a process essential for efficient nerve signal transmission. Alterations or mutations in OLIG1 can disrupt myelin formation and are linked to demyelinating disorders such as multiple sclerosis.



OLIG1

GPD2 (Glycerol-3-Phosphate Dehydrogenase 2): GPD2 is an enzyme that plays a key role in glycerol metabolism and lipid biosynthesis. It catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, an essential step in lipid synthesis. This function is vital for maintaining energy storage and lipid balance in the body.

GPD2

OLFM3 (Olfactomedin 3): OLFM3 is a protein belonging to the olfactomedin domain–containing family, predominantly expressed in the brain. It is thought to be involved in neural development and function, though its precise roles in the nervous system remain under investigation.



OLFM3

IL16 (Interleukin 16): IL16 is a cytokine that acts as a chemoattractant for specific immune cells, helping regulate immune responses and inflammation. It participates in cellular signaling pathways and has been linked to various inflammatory and autoimmune conditions.

IL16

CLDN11 (Claudin 11): CLDN11 is a protein that forms part of tight junctions — structures essential for maintaining barrier integrity in tissues. It plays a key role in the central nervous system and testes, contributing to myelin sheath formation and spermatogenesis. Mutations in CLDN11 may lead to neurological impairments and reproductive disorders.



CLDN11

RAB28 (Ras-Related Protein Rab-28): RAB28 is a member of the RAB family of small GTPases, proteins involved in regulating intracellular vesicle trafficking. RAB28 contributes to vesicle transport and membrane dynamics within the cell.

RAB28

UBE3A (Ubiquitin Protein Ligase E3A): UBE3A is a gene that encodes an E3 ubiquitin ligase enzyme, which helps regulate protein degradation through the ubiquitin–proteasome pathway. It plays an important role in normal brain development and function. Mutations in UBE3A are linked to Angelman syndrome, a neurodevelopmental disorder marked by intellectual disability, developmental delay, and characteristic behavioral features.

UBE3A

PGLYRP2 (Peptidoglycan Recognition Protein 2): PGLYRP2 is a member of the peptidoglycan recognition protein family, involved in innate immunity by detecting bacterial cell wall components and triggering antibacterial responses. It helps maintain intestinal barrier integrity, supports a balanced gut microbiome, and protects against bacterial infections. PGLYRP2 is also under investigation for its role in inflammatory bowel diseases and its potential as a therapeutic target in gut immunity and inflammation.

PGLYRP2

COPB1 (Coatomer Protein Complex Subunit Beta 1): COPB1 is a component of the coatomer protein complex that functions in intracellular transport. It is essential for moving proteins between the endoplasmic reticulum and the Golgi apparatus, a process critical for proper cell function and accurate protein sorting.



COPB1

IL1RL1 (Interleukin 1 Receptor Like 1): IL1RL1 is a receptor for interleukin-33 (IL-33), a cytokine involved in inflammation and allergic responses. Also known as ST2, IL1RL1 mediates IL-33’s effects in the immune system and plays a key role in conditions such as asthma, atopic dermatitis, and other allergic diseases. Its involvement in the IL-33 signaling pathway makes it a potential target for therapies aimed at allergic and inflammatory disorders.

IL1RL1

KDR: KDR (also known as VEGFR2) is a gene that plays a central role in angiogenesis — the formation of new blood vessels. It encodes a receptor for vascular endothelial growth factor (VEGF), which is essential for blood vessel growth, development, and repair. Alterations in KDR can influence processes in cancer, where angiogenesis supports tumor growth, as well as in cardiovascular diseases.

CNDP1 (Carnosine Dipeptidase 1): CNDP1 is a gene that encodes an enzyme responsible for breaking down carnosine, a dipeptide with potential antioxidant properties. This enzyme plays an important role in metabolic processes and is particularly relevant in diabetes, where it may help protect against diabetic nephropathy. Understanding CNDP1 is key to developing strategies for preventing diabetic complications.



CNDP1

CD151 (Cluster of Differentiation 151): CD151 is a cell surface protein belonging to the tetraspanin family. It plays an important role in cell adhesion, migration, and signal transduction by interacting with other proteins on the cell membrane. Through these interactions, CD151 helps regulate cellular communication and movement.



CD151

NEBL (Nebulette): NEBL is a gene that encodes a cardiac-specific actin-binding protein essential for the structural integrity and function of heart muscle cells. It plays a key role in organizing the actin cytoskeleton, which influences cardiac muscle contraction and overall heart performance. Mutations in NEBL have been linked to cardiomyopathies, highlighting its important role in maintaining cardiac muscle structure and function.

NEBL

TAFA3 (TAFA Chemokine Like Family Member 3): TAFA3 is part of a family of proteins similar to chemokines, involved in immune responses and inflammation. While its specific role is not fully understood, TAFA3 is believed to help regulate immune cell activity and may contribute to neuroinflammatory processes.

TAFA3

ADRA2A (Alpha-2 Adrenergic Receptor 2A): ADRA2A is a G protein-coupled receptor that responds to the neurotransmitter norepinephrine. It plays a key role in regulating blood pressure, controlling vasoconstriction, and mediating the body’s fight-or-flight response.

ADRA2A

PRICKLE1 (Prickle Planar Cell Polarity Protein 1): PRICKLE1 is a gene involved in the planar cell polarity pathway, which coordinates the orientation of cells within tissue planes. It plays an important role in neural development and function. Mutations in PRICKLE1 have been linked to epilepsy and neurodevelopmental disorders.

PRICKLE1

NT5DC2 (5'-Nucleotidase Domain Containing 2): NT5DC2 is an enzyme that may be involved in nucleotide metabolism. While its specific biological functions are not fully characterized, enzymes in this family generally play important roles in purine and pyrimidine metabolism, which are essential for DNA and RNA synthesis, cellular signaling, and energy transfer.



NT5DC2

GLP1R (Glucagon-Like Peptide 1 Receptor): GLP1R is a receptor for the hormone GLP-1, which plays a key role in regulating insulin secretion and glucose metabolism. When activated by GLP-1 or its analogs, GLP1R enhances insulin release, reduces glucagon secretion, and promotes feelings of fullness, making it an important target in treatments for type 2 diabetes and obesity.

GLP1R

TENT5A (Terminal Nucleotidyltransferase 5A): TENT5A is an enzyme that catalyzes the addition of nucleotides to the 3' end of RNA molecules. It plays a role in RNA processing and modification. Although its specific functions are still being studied, TENT5A may influence important cellular processes.

TENT5A

COL2A1 (Collagen Type II Alpha 1 Chain): COL2A1 is a gene that encodes type II collagen, a key structural protein found predominantly in cartilage. This collagen plays an essential role in maintaining cartilage strength and integrity. Mutations in COL2A1 are linked to several skeletal disorders, including osteoarthritis and different forms of chondrodysplasia.



COL2A1

PPARA (Peroxisome Proliferator-Activated Receptor Alpha): PPARA is a nuclear receptor that regulates lipid metabolism, especially in the liver. It plays a central role in breaking down fatty acids, promoting their oxidation, and lowering triglyceride levels. PPARA also influences inflammatory pathways and is a therapeutic target for managing hyperlipidemia.

ARHGAP21

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