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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

GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.

<p>GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.</p>

DNA Brain Health Test

CASQ2 (Calsequestrin 2): CASQ2 is a protein involved in calcium storage within the sarcoplasmic reticulum of cardiac muscle cells. It plays a key role in regulating calcium balance and cardiac muscle contraction. Mutations in CASQ2 are associated with catecholaminergic polymorphic ventricular tachycardia, a condition characterized by irregular heartbeats triggered by physical activity or stress.



CASQ2

CCDC170 (Coiled-Coil Domain Containing 170): CCDC170 is a gene with a less well-understood function, but it has been linked to breast cancer, especially estrogen receptor-positive breast cancer. It may be involved in cellular structure and organization.



CCDC170

ALPL (Alkaline Phosphatase, Liver/Bone/Kidney): ALPL encodes an enzyme involved in dephosphorylation processes that are essential for bone mineralization. This enzyme plays a key role in bone development, liver function, and overall mineral metabolism. Mutations in ALPL can lead to hypophosphatasia, a disorder that affects bone formation.

ALPL

BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein-Like): BET1L is a protein that plays a key role in the vesicular transport system, specifically managing the trafficking between the endoplasmic reticulum and the Golgi apparatus. This process is essential for the proper secretion and processing of proteins, which supports important cellular functions such as cell signaling, metabolism, and structural maintenance. BET1L’s function in this transport pathway is vital for normal cellular operations and maintaining cellular homeostasis.



BET1L

BRSK2 (BR Serine/Threonine Kinase 2): BRSK2 is a member of the AMP-activated protein kinase family, involved in neuronal development and polarization. It plays a key role in synaptic plasticity and the maturation of neurons. Changes or mutations in BRSK2 have been linked to neurological disorders and may contribute to neurodevelopmental diseases



BRSK2

CCDC171 (Coiled-Coil Domain Containing 171): CCDC171 is a gene characterized by the presence of a coiled-coil domain, which suggests a role in protein-protein interactions. While its specific function is not fully understood, genes with similar domains are commonly involved in cellular processes such as vesicle transport, cell division, and signal transduction.



CCDC171

CELF2 (CUGBP Elav-Like Family Member 2): CELF2 is a member of the CUG-BP, Elav-like family of RNA-binding proteins, which play essential roles in regulating RNA processing, including alternative splicing, stability, and translation. CELF2 is involved in immune system development and function and has been linked to neurological disorders. Its role in post-transcriptional gene regulation makes it an important factor in cell differentiation and disease development, presenting potential targets for therapeutic intervention.



CELF2

HLA-DQA1 (Human Leukocyte Antigen DQ Alpha 1 Chain): HLA-DQA1 is a key component of the MHC class II molecule complex. It plays an essential role in the immune system by presenting peptide antigens to CD4+ T cells. This function is critical for triggering the adaptive immune response against pathogens. Variations in the HLA-DQA1 gene are linked to susceptibility to autoimmune diseases like type 1 diabetes and celiac disease, highlighting its importance in immune regulation and disease risk.

HLA-DQA1

EGLN2 (Egl-9 Family Hypoxia-Inducible Factor 2): EGLN2 is an enzyme that regulates the stability of hypoxia-inducible factors (HIFs), which are key proteins involved in the cellular response to low oxygen levels. EGLN2 plays a critical role in helping cells adapt to hypoxia and is significant in cancer biology, as HIFs are often elevated in tumors.

EGLN2

HFE (Homeostatic Iron Regulator): HFE is a gene that plays a key role in regulating iron absorption and maintaining iron balance in the body. Mutations in HFE can cause hereditary hemochromatosis, a condition marked by excessive iron buildup, which may result in damage to organs.

ITGA1 (Integrin Subunit Alpha 1): ITGA1 is a gene that encodes a protein belonging to the integrin alpha chain family. These proteins play key roles in cell adhesion and signal transduction, particularly in mediating interactions between cells and the extracellular matrix. Mutations in ITGA1 are associated with various pathological conditions, including fibrosis and cancer metastasis.

ITGA1

HGF (Hepatocyte Growth Factor): Hepatocyte Growth Factor (HGF) is a multifunctional growth factor that influences various cells by promoting cell growth, motility, and morphogenesis. It plays a key role in liver regeneration as a powerful mitogen for hepatocytes and is involved in wound healing and tissue repair. HGF’s ability to stimulate cell growth and migration also makes it important in cancer research, where it can affect tumor growth and metastasis. The therapeutic potential of HGF and its inhibitors is a major focus in regenerative medicine and oncology.

COL11A1 (Collagen Type XI Alpha 1 Chain): COL11A1 is a gene that encodes a key component of type XI collagen, which is essential for the structure and integrity of connective tissue. Mutations in COL11A1 are linked to several connective tissue disorders, including some forms of Ehlers-Danlos syndrome and Stickler syndrome.



COL11A1

CEBPA (CCAAT Enhancer Binding Protein Alpha): CEBPA is a transcription factor essential for regulating genes involved in immune and inflammatory responses. It plays a key role in the differentiation of myeloid cells and is important for normal hematopoiesis. Mutations in CEBPA are linked to acute myeloid leukemia.



CEBPA

CCDC179 (Coiled-Coil Domain Containing 179): CCDC179 is a gene that encodes a protein featuring a coiled-coil domain. Proteins with this domain typically play key roles in structural organization and protein interactions. Although the specific functions of CCDC179 are not well-defined, genes like this are often involved in important cellular processes such as vesicle transport, chromosome segregation, and cell division.



CCDC179

MEF2C (Myocyte Enhancer Factor 2C): MEF2C is a transcription factor that plays a vital role in muscle development and neuronal differentiation. It is essential for proper brain development and function, with mutations linked to severe intellectual disability, autistic features, and epilepsy. In cardiac muscle, MEF2C is critical for heart formation and development, where dysfunctions can result in congenital heart defects.


MEF2C

CCL8 (C-C Motif Chemokine Ligand 8): CCL8 is a chemokine involved in the immune response. Also known as MCP-2, it plays a key role by attracting and activating white blood cells. CCL8 is important in inflammation and the body’s defense against infections, and has been linked to various inflammatory and autoimmune diseases.



CCL8

CA3 (Carbonic Anhydrase III): CA3 is an enzyme that plays a key role in regulating pH and ion exchange in the body’s tissues, especially in muscles. It facilitates the rapid conversion of carbon dioxide to bicarbonate and protons, supporting important physiological processes such as respiratory gas transport and maintaining acid-base balance in blood and tissues.


ABCG5 (ATP Binding Cassette Subfamily G Member 5): ABCG5 is a gene that encodes a protein belonging to the ATP-binding cassette transporter family. It plays a key role in regulating dietary cholesterol by working together with ABCG8 to limit the absorption of sterols in the intestines and promote their excretion from the body. Mutations in ABCG5 are linked to sitosterolemia, a rare condition characterized by elevated plant sterol levels in the blood, which can lead to atherosclerosis and cardiovascular complications.

ABCG5

ZKSCAN5 (Zinc Finger with KRAB and SCAN Domains 5): ZKSCAN5 encodes a zinc finger protein containing KRAB (Krüppel-associated box) and SCAN (SRE-ZBP, CTfin51, AW-1, and Number 18 cDNA) domains. These domains play important roles in transcriptional regulation and DNA binding. The specific functions of ZKSCAN5 are still under investigation.

ZKSCAN5

SLC35F2 (Solute Carrier Family 35 Member F2): SLC35F2 is a protein that belongs to the solute carrier family, responsible for transporting nucleotide sugars across the Golgi membrane. This transport is essential for glycosylation, a process crucial for the proper function of many proteins and lipids. Glycosylation affects cell communication, immune responses, and pathogen recognition. The exact substrates and biological functions of SLC35F2 are still being studied, with important implications for understanding glycosylation-related diseases.


SLC35F2

FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is a protein involved in the translation process of protein synthesis, specifically responsible for attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations or dysregulation of FARSA can lead to errors in protein synthesis, potentially causing various cellular dysfunctions and contributing to disease development.

FARSA

CDO1 (Cysteine Dioxygenase Type 1): CDO1 is an enzyme that facilitates the conversion of cysteine to cysteine sulfinic acid, a key step in the metabolism of sulfur-containing amino acids. This process plays a vital role in regulating cellular cysteine levels and supporting the production of taurine and sulfate. Proper CDO1 function is important for maintaining cellular redox balance, and abnormalities in this enzyme have been associated with various health conditions, including cancer, due to cysteine’s role in cell growth and programmed cell death.



CDO1

CDKAL1 (CDK5 Regulatory Subunit-Associated Protein 1-Like 1): CDKAL1 is a gene involved in the regulation of insulin secretion from pancreatic beta cells and glucose metabolism. It plays a key role in maintaining glucose homeostasis. Variations in CDKAL1 have been linked to an increased risk of type 2 diabetes.



CDKAL1

CLPTM1 (Cleft Lip and Palate Transmembrane Protein 1): CLPTM1 is a transmembrane protein involved in key cellular processes such as cell proliferation, apoptosis, and carcinogenesis. While its exact function remains not fully defined, research indicates its potential role in cancer development and progression. CLPTM1 expression has been linked to multiple cancers, including lung, pancreatic, and ovarian cancers, where it may contribute to tumor growth and metastasis. It is also associated with smoking-related cancers due to its interaction with tobacco-related carcinogens. Understanding CLPTM1’s molecular mechanisms could offer valuable insights into cancer biology and therapeutic strategies.



CLPTM1

CDH6 (Cadherin 6): CDH6 is a member of the cadherin family, which mediates cell-cell adhesion in various tissues. It plays an important role in kidney and neural development and may be involved in cancer metastasis, reflecting cadherins’ key function in maintaining tissue integrity and structure.



CDH6

IRF4 (Interferon Regulatory Factor 4): IRF4 is a transcription factor that plays a key role in the immune response, particularly in regulating the function of B and T lymphocytes. It is essential for the differentiation of immune cells and is involved in the development of autoimmune and inflammatory diseases, as well as certain types of leukemia and lymphoma.

IRF4

HS3ST4 (Heparan Sulfate-Glucosamine 3-Sulfotransferase 4): HS3ST4 is an enzyme involved in modifying heparan sulfate, a key component of the extracellular matrix. This modification plays an important role in cell signaling and blood coagulation. Dysregulation of HS3ST4 can affect cellular interactions and may have implications in cancer and vascular disorders.

HS3ST4

IFITM2 (Interferon Induced Transmembrane Protein 2): IFITM2 is a member of the interferon-induced transmembrane protein family that plays a key role in the body’s defense against viral infections. It helps inhibit the replication and spread of various enveloped viruses by blocking the fusion of viral and host cell membranes—a crucial step in the viral life cycle. IFITM2 expression is increased in response to interferon, emphasizing its importance in the innate immune response to viral threats.

IFITM2

HES6 (Hes Family BHLH Transcription Factor 6): HES6 is a member of the HES family of transcription factors, which play important roles in regulating developmental processes. HES6 primarily functions in neural differentiation and may inhibit other HES proteins to promote the development of neurons. It has been studied in neurodevelopment, with its dysregulation linked to certain neurological disorders.

HES6

HLA-DPB1 (Major Histocompatibility Complex, Class II, DP Beta 1): HLA-DPB1 is a gene that encodes a protein essential for the immune system’s ability to identify and respond to foreign substances. It plays a key role in antigen presentation and is important in autoimmune disease development and transplant compatibility.

HLA-DPB1

MYPOP (Myb-related transcription factor partner): MYPOP is a key regulator that interacts with Myb-related transcription factors to modulate gene expression. Similar to MMP15’s role in the extracellular matrix, MYPOP plays a vital part in controlling cellular processes such as proliferation, differentiation, and cell cycle progression. Through its influence on transcriptional regulation, MYPOP impacts important physiological functions including tissue development, immune response, and maintenance of homeostasis. Dysregulation of MYPOP has been linked to various pathological conditions, including cancer, developmental disorders, and immune diseases.

MYPOP

FKBP4, also known as FK506-binding protein 4 or FKBP52, is a member of the FK506-binding protein (FKBP) family, a group of peptidyl-prolyl cis-trans isomerases (PPIases) that act as molecular chaperones. FKBP4 is mainly located in the cytoplasm and nucleus of cells, where it helps regulate protein folding, trafficking, and signal transduction. A key role of FKBP4 is serving as a co-chaperone for steroid hormone receptors, such as the glucocorticoid receptor (GR) and androgen receptor (AR). FKBP4 interacts with these receptors in the cytoplasm, assisting their proper folding and assembly into functional complexes with heat shock proteins (HSPs).

FKBP4

GNL3 (Guanine Nucleotide Binding Protein-Like 3): GNL3 is a protein involved in regulating cell proliferation and maintaining stem cells. Also known as nucleostemin, GNL3 plays a key role in controlling the cell cycle in both stem cells and cancer cells. It has been studied for its potential involvement in tumor development and cellular aging.

GNL3

TAS2R5 (Taste 2 Receptor Member 5): TAS2R5 is a bitter taste receptor in humans that plays a key role in detecting bitterness. These receptors help identify potentially harmful substances in food. Variations in TAS2R5 and other taste receptors can affect dietary preferences and nutritional choices, which may influence metabolism and overall health.



TAS2R5

SPATA2 (Spermatogenesis Associated 2): SPATA2 is a protein involved in regulating cell death and inflammation through its role in the TNF receptor signaling pathway. It helps recruit key enzymes to signaling complexes, which are essential for activating cell death and inflammatory responses. Research on SPATA2 focuses on understanding its role in spermatogenesis, cell death, and inflammation, with implications for diseases where these processes are disrupted.

SPATA2

INSR, or Insulin Receptor, is a transmembrane receptor protein that plays a key role in mediating the biological effects of insulin, a hormone involved in regulating glucose metabolism, lipid metabolism, and cellular growth. INSR is primarily located on the surface of target cells, such as adipocytes, hepatocytes, and skeletal muscle cells. Its main function is in insulin signaling pathways — when insulin binds to the extracellular domain of INSR, the receptor undergoes conformational changes that trigger autophosphorylation of tyrosine residues in its intracellular domain, activating its tyrosine kinase activity.

INSR

TTC6 (Tetratricopeptide Repeat Domain 6): TTC6 is a gene that encodes a protein containing tetratricopeptide repeat domains, which are known for facilitating protein-protein interactions. TTC6 plays a role in several cellular processes, including protein trafficking and signaling pathways. Its precise functions in human physiology are still under investigation.

TTC6

HACD4 (Hydroxyacyl-CoA Dehydratase 4): HACD4 is an enzyme involved in the biosynthesis of very long-chain fatty acids (VLCFAs). These fatty acids are essential for maintaining cellular functions such as membrane structure and energy storage. HACD4 plays a key role in lipid metabolism and has been associated with skin development and function.

HACD4

SLC10A2 (Solute Carrier Family 10 Member 2): SLC10A2 is a gene that encodes a solute carrier protein responsible for the transport of bile acids in the intestines. Bile acids are essential for digesting and absorbing dietary fats. The function of SLC10A2 is crucial for maintaining bile acid balance, supporting efficient fat absorption, and regulating cholesterol metabolism. Disruptions in SLC10A2 can lead to bile acid-related disorders and impact overall lipid metabolism.



SLC10A2

SP9 (Sp9 Transcription Factor): SP9 is a protein that acts as a transcription factor, playing a key role in brain development. It is essential for regulating genes in neural progenitor cells and has been studied for its involvement in neurodevelopmental processes and related disorders.

FZD8 (Frizzled Class Receptor 8): FZD8 is a gene that encodes a receptor for Wnt signaling proteins. It plays a crucial role in embryonic development and cell signaling pathways. FZD8 is essential for processes such as cell differentiation, proliferation, and polarity. Abnormalities in FZD8 signaling are linked to developmental defects and several types of cancer.

FZD8

NSG1 (Neuronal Vesicle Trafficking-Associated 1): NSG1 is a gene involved in neuronal vesicle trafficking and synapse formation. It plays a key role in regulating neurotransmitter release and synaptic transmission. Understanding NSG1 is important for exploring the mechanisms behind neuronal communication and synaptic plasticity, which are essential for brain function.


NSG1

SOX9 (SRY-Box Transcription Factor 9): SOX9 is a transcription factor that plays a vital role in the development of various tissues, including cartilage, bone, and male gonads. It is essential for proper tissue formation, and mutations in SOX9 can result in skeletal and reproductive developmental abnormalities.

SOX9

TFCP2 (Transcription Factor CP2): TFCP2,also known as LSF (Late SV40 Factor), is a transcription factor that regulates gene expression by binding to GC-rich promoter regions of target genes. It plays important roles in various biological processes such as cell cycle progression, liver regeneration, and viral replication. TFCP2’s involvement in cell proliferation and differentiation links it to development and diseases like cancer, where transcription factor dysregulation can lead to abnormal cell growth and tumor progression.


TFCP2

PALM (Paralemmin): PALM is a protein involved in neuronal plasticity, membrane trafficking, and cytoskeletal dynamics. It plays a key role in the formation and maintenance of dendritic spines, which are essential for effective synaptic signaling in neurons.



PALM

GZMH (Granzyme H): GZMH is a gene that encodes a protease belonging to the granzyme family. These enzymes play a key role in immune responses by helping cytotoxic T cells kill target cells, especially in the defense against viral infections and cancer. The presence of GZMH highlights the complex immune strategies used to fight pathogens and malignant cells.

GZMH

PRR16 (Proline Rich 16): PRR16 is a less characterized protein, potentially involved in cellular processes due to its proline-rich domain. These domains are often implicated in protein-protein interactions, suggesting a role in cellular signaling or structural functions.

PRR16

TRIM69 (Tripartite Motif Containing 69): TRIM69 is a member of the TRIM protein family, involved in various cellular processes such as viral defense, transcription regulation, and cell cycle control. TRIM69 plays a role in antiviral response and immune regulation, with the potential to influence the innate immune system by modulating key signaling pathways. Ongoing research focuses on understanding its specific mechanisms and its impact on disease resistance and immune function.

TRIM69

FYB2 (FYN Binding Protein 2): FYB2 is a protein that acts as an adaptor involved in signal transduction pathways within immune cells. Also known as ADAP2, it mediates interactions between various signaling molecules and plays a key role in regulating immune cell activation and response. Understanding FYB2’s function is important for exploring immune regulation mechanisms and related disorders.

FYB2

SLC16A1 (Solute Carrier Family 16 Member 1): SLC16A1,also known as MCT1, is a transporter protein that facilitates the rapid movement of lactate and other monocarboxylates across cell membranes. It plays a key role in lactate metabolism, which is important in various physiological processes like exercise and pathological conditions such as cancer metabolism.



SLC16A1

ACE (Angiotensin-Converting Enzyme): ACE is a key enzyme in the Renin-Angiotensin System (RAS) that plays an essential role in regulating blood pressure and fluid balance. It catalyzes the conversion of angiotensin I to angiotensin II, a powerful vasoconstrictor. This process helps control vascular tone, electrolyte balance, and blood pressure. In addition to its role in narrowing blood vessels and stimulating aldosterone release, ACE is involved in heart function, kidney health, and inflammatory responses. Dysregulation of ACE activity is linked to conditions such as hypertension, heart failure, and kidney disease.

PRSS1 (Protease, Serine 1): PRSS1 is a gene that encodes trypsin, a digestive enzyme produced in the pancreas. Trypsin plays a key role in digestion by breaking down proteins. Mutations in PRSS1 can cause hereditary pancreatitis, a condition marked by repeated episodes of pancreatic inflammation. Understanding PRSS1 is important for insights into pancreatic function and managing pancreatic disorders.




PRSS1

VEGFA (Vascular Endothelial Growth Factor A): VEGFA is a key regulator involved in blood vessel formation and vascular function. As an important member of the vascular endothelial growth factor (VEGF) family, VEGFA promotes the proliferation and migration of endothelial cells, driving angiogenesis — the formation of new blood vessels. This process is essential for physiological functions such as wound healing, embryonic development, and tissue repair. Proper regulation of VEGFA expression and activity is critical for maintaining vascular integrity and homeostasis. Dysregulation of VEGFA signaling is associated with various pathological conditions, including cancer progression.

VEGFA

CCND2 (Cyclin D2): CCND2 is a member of the cyclin family and plays a key role in regulating the cell cycle. It forms complexes with cyclin-dependent kinases (CDKs) to control the transition from the G1 phase to the S phase. Dysregulation of CCND2 can lead to uncontrolled cell growth and is linked to the development of various cancers.


CCND2

ORC5 (Origin Recognition Complex Subunit 5): ORC5 is a protein that is part of the origin recognition complex, a critical component in the initiation of DNA replication in eukaryotic cells. It plays an essential role in ensuring accurate DNA replication, which is vital for maintaining genomic integrity. Dysfunction in ORC5 or the replication initiation process can lead to genomic instability, a characteristic of cancer cells, and contribute to developmental disorders related to impaired cell proliferation.


ORC5

SOX6 (SRY-Box Transcription Factor 6): SOX6 is a protein that plays a key role in the development and differentiation of multiple tissues, including cartilage, muscle, and the central nervous system. It is essential for chondrocyte differentiation and skeletal development, as well as regulating neuronal development. Dysregulation of SOX6 has been linked to skeletal malformations and may impact cognitive function, highlighting its diverse role in developmental processes.



SOX6

GSDMC (Gasdermin C): GSDMC is a member of the gasdermin family, known for its role in pyroptosis — a form of programmed cell death linked to inflammation. While the exact functions of GSDMC are less understood compared to other gasdermins, it is thought to be involved in epithelial cell differentiation and may have a role in cancer development. Studying GSDMC can offer important insights into inflammation-related diseases and tumor biology.

GSDMC

FZD10 (Frizzled Class Receptor 10): FZD10 is a receptor that binds Wnt signaling proteins, playing a key role in embryonic development, cell proliferation, and differentiation. It is especially involved in the Wnt/β-catenin signaling pathway and has been linked to cancer development, particularly when Wnt signaling is dysregulated.

FZD10

ASB2 (Ankyrin Repeat and SOCS Box Containing 2): ASB2 is a member of the ASB family involved in the ubiquitin-proteasome pathway, which regulates protein degradation. ASB2 functions by targeting specific proteins for ubiquitination and subsequent breakdown, helping control protein levels within cells. It plays an important role in regulating actin cytoskeleton dynamics and muscle function. Additionally, ASB2 is linked to the regulation of hematopoietic stem cell differentiation and may impact the development of certain leukemias and muscular disorders. Dysregulation of ASB2 can disturb normal cellular homeostasis.

ASB2

CCR2 (C-C Motif Chemokine Receptor 2): CCR2 is a receptor that binds chemokines, including CCL8. It is mainly expressed on immune cells and plays a key role in directing their migration to sites of inflammation. CCR2 is important for the immune response against infections and has been extensively studied in the context of inflammatory diseases, cancer, and HIV infection.



CCR2

COX7C (Cytochrome C Oxidase Subunit 7C): COX7C is a gene that encodes a subunit of cytochrome c oxidase, an essential enzyme complex located in the mitochondria. This complex plays a key role in the electron transport chain, a vital step in cellular respiration. By aiding in the transfer of electrons and protons, COX7C helps drive the production of cellular energy in the form of adenosine triphosphate (ATP).



COX7C

SLC17A1 (Solute Carrier Family 17 Member 1): SLC17A1 encodes a vesicular glutamate transporter that is responsible for packaging and releasing glutamate, a key neurotransmitter, into synaptic vesicles. This protein plays a vital role in neuronal communication and synaptic transmission.



SLC17A1

HNF4G (Hepatocyte Nuclear Factor 4 Gamma): HNF4G is a transcription factor that plays a key role in liver development and function. It regulates genes involved in glucose and lipid metabolism and contributes to the development of the pancreas and kidneys. Dysregulation of HNF4G can affect metabolic processes and has been linked to diabetes and liver diseases.

HNF4G

GRAMD2B (GRAM Domain Containing 2B): GRAMD2B is a protein belonging to the GRAM domain family. These proteins are involved in cellular processes such as lipid binding and transport. While the specific functions of GRAMD2B in human physiology are not yet fully understood, GRAM domains are commonly linked to membrane-related activities.

GRAMD2B

TGFA (Transforming Growth Factor Alpha): TGFA is a growth factor that binds to the epidermal growth factor receptor (EGFR), triggering a signaling cascade that promotes cell proliferation and differentiation. It plays a key role in the development and repair of epithelial tissues and is involved in cancer development through its ability to stimulate cell growth. Studying TGFA provides insights into tissue regeneration and carcinogenesis, highlighting potential therapeutic targets for cancer and diseases related to epithelial tissue damage and repair.



TGFA

C2CD4B (C2 Calcium-Dependent Domain Containing 4B): C2CD4B is a gene that encodes a protein featuring C2 calcium-dependent domains. These domains are commonly found in proteins that participate in calcium-mediated cellular processes. Although the exact function of C2CD4B remains under investigation, its structure suggests a potential role in calcium signaling pathways and membrane dynamics. Further research is needed to clarify its specific function in cellular activities.


C2CD4B

CPLANE2 (Ciliogenesis and Planar Polarity Effector 2): CPLANE2 is a gene involved in ciliogenesis and the establishment of planar cell polarity (PCP). It plays a role in the formation and function of cilia, which are essential cellular structures involved in processes such as signal transduction and cell motility.


CPLANE2

CDH8 (Cadherin 8): CDH8 is a gene that encodes a type of cadherin, a protein essential for cell adhesion. Cadherins play a key role in tissue formation and maintaining cell structure. CDH8 is especially important for nervous system development, contributing to neural connections and brain formation. Variations in CDH8 are linked to neurodevelopmental disorders, highlighting its significance in neurological research.



CDH8

ELFN2 (Extracellular Leucine-Rich Repeat and Fibronectin Type III Domain Containing 2): ELFN2 is a gene that encodes a protein featuring leucine-rich repeat and fibronectin type III domains. These domains are important for cell adhesion, signaling, and interactions with the extracellular matrix. ELFN2 is especially significant for neural development and synaptic plasticity, where it may help regulate neuronal connections in the brain.

ELFN2

LINGO1 (Leucine Rich Repeat and Ig Domain Containing 1): LINGO1 is a protein that plays a critical role in neural development, especially in the myelination of neurons. It functions as a negative regulator of oligodendrocyte differentiation and myelination. LINGO1 has been linked to neurodegenerative diseases such as multiple sclerosis and Parkinson’s disease. Inhibiting LINGO1 is being studied as a potential therapeutic strategy to promote remyelination and support neural repair in these conditions.

LINGO1

GSDMB (Gasdermin B): GSDMB is a member of the gasdermin family, involved in regulating cell death and inflammation. It has been linked to susceptibility to asthma and autoimmune diseases. Due to its role in inflammatory responses, GSDMB is considered a potential target for therapeutic interventions in these conditions.

GSDMB

HLA-DRA (Major Histocompatibility Complex, Class II, DR Alpha): HLA-DRA is a key gene in the MHC class II complex that plays an essential role in the immune response. It is responsible for presenting peptides from extracellular proteins to T cells. Variations in this gene can influence immune system function and susceptibility to autoimmune diseases.

HLA-DRA

CNTLN (Centlein): CNTLN is a protein involved in centrosome function, essential for proper cell division. It plays a key role in maintaining centrosome integrity and spindle assembly during mitosis. Dysfunction of CNTLN can lead to chromosomal instability, a characteristic of cancer cells, making it important in the study of tumor development and progression.



CNTLN

OTUD1 (OTU Deubiquitinase 1): OTUD1 (OTU Deubiquitinase 1) is an enzyme that removes ubiquitin from ubiquitinated proteins, playing a key role in regulating their degradation, signaling, and various cellular processes. OTUD1 contributes to the control of immune responses and cell signaling pathways by modulating the stability of specific protein targets. Its role in maintaining protein homeostasis and regulating immune signaling underscores its potential importance in immune-related diseases and cancer.



OTUD1

BRINP1, or BMP/retinoic acid-inducible neural-specific protein 1, is a member of the BRINP family of proteins. It is primarily expressed in the brain and plays important roles in neuronal processes such as neurodevelopment, synaptic plasticity, and neuronal survival. BRINP1 is induced by factors like bone morphogenetic proteins (BMPs) and retinoic acid during early neural development, indicating its involvement in the patterning and differentiation of neural progenitor cells. Its expression is tightly regulated both spatially and temporally in the developing brain, highlighting its key role in neural maturation and function.


BRINP1

C1QL3 (Complement C1q Like Protein 3): C1QL3 (Complement C1q Like Protein 3) is a member of the C1q/tumor necrosis factor-related protein family. It is potentially involved in immune and inflammatory responses. While its exact physiological role is still being explored, C1QL3 may play a part in immune system regulation and neuroinflammation.


C1QL3

CPPED1, also known as Serine/threonine-protein phosphatase 6 regulatory subunit 2, is an important regulatory protein involved in cellular signaling pathways. Located mainly in the cytoplasm and nucleus, CPPED1 acts as a regulatory subunit of protein phosphatase 6 (PP6), part of the PPP family of serine/threonine phosphatases. It plays a key role in modulating PP6 activity, which is essential for processes such as cell cycle progression, DNA damage response, and protein degradation. Through its interaction with PP6, CPPED1 helps regulate substrate specificity and the enzyme’s subcellular localization.



CPPED1

SIDT1 (SID1 Transmembrane Family, Member 1): SIDT1 is a protein involved in the cellular uptake of double-stranded RNA (dsRNA). It plays an important role in RNA interference and antiviral responses, contributing to the body’s defense against viral infections and aiding research into RNA-based therapeutic strategies.


SIDT1

SLC20A2 (Solute Carrier Family 20 Member 2): SLC20A2 is a phosphate transporter that plays a key role in maintaining phosphate homeostasis. Mutations in this gene are linked to primary familial brain calcification, a disorder marked by abnormal calcium-phosphate deposits in the brain.

SLC20A2

SLC25A2 (Solute Carrier Family 25 Member 2): SLC25A2 is a gene that encodes a mitochondrial transport protein involved in the movement of ornithine across the mitochondrial membrane. This transport is essential for the urea cycle and amino acid metabolism. Dysfunction in SLC25A2 can result in metabolic disorders, underscoring its key role in metabolic pathways and its potential as a therapeutic target for related diseases.

2SLC25A2

SLC12A1 (Solute Carrier Family 12 Member 1): SLC12A1 is a transporter protein belonging to the solute carrier (SLC) family. It plays a key role in the kidney by facilitating the reabsorption of sodium and chloride ions. This function is essential for maintaining electrolyte balance and regulating blood pressure. In the complex filtration process of the renal system, SLC12A1 ensures precise ion reabsorption to support overall bodily homeostasis.


SLC12A1

CPS1 (Carbamoyl-phosphate synthase 1): CPS1 is a key enzyme in the urea cycle that plays a vital role in detoxifying ammonia in the body. It catalyzes the formation of carbamoyl phosphate from ammonia and bicarbonate, starting the process of urea synthesis in the liver. The urea cycle is essential for removing excess nitrogen produced from protein and amino acid breakdown, preventing toxic ammonia buildup in the bloodstream. CPS1 activity is carefully regulated to maintain nitrogen balance and avoid hyperammonemia, a condition linked to neurological damage and other serious complications.



CPS1

ZDHHC20 (Zinc Finger DHHC-Type Palmitoyltransferase 20): ZDHHC20 is an enzyme belonging to the DHHC family of palmitoyltransferases. These enzymes catalyze protein palmitoylation, a post-translational modification where a fatty acid, palmitate, is attached to specific cysteine residues on target proteins. This modification regulates the proteins’ cellular localization, stability, and function. ZDHHC20 specifically facilitates the palmitoylation of certain proteins, affecting their membrane association and intracellular trafficking. Through this role, ZDHHC20 influences key cellular processes such as signal transduction, synaptic plasticity, and membrane trafficking. Dysregulation of ZDHHC20 has been linked to various neurological disorders.

ZDHHC20

CELF4 (CUGBP, Elav-Like Family Member 4): CELF4 is a gene that encodes an RNA-binding protein belonging to the CUGBP/Elav-like family. Proteins like CELF4 play important roles in RNA processing and the post-transcriptional regulation of gene expression. CELF4’s functions likely involve RNA metabolism and regulation, affecting a range of cellular processes.



CELF4

ZIC2 (Zic Family Member 2): ZIC2 is a transcription factor that plays a key role in neural development, especially in the formation of the midbrain and hindbrain. Mutations in ZIC2 are linked to holoprosencephaly, a developmental disorder impacting brain and facial formation.

ZIC2

FLNB (Filamin B): FLNB is a gene that encodes a protein essential for cross-linking actin filaments in the cytoskeleton. This protein plays a key role in maintaining the structure and function of cells. Mutations in FLNB lead to a group of skeletal disorders called filaminopathies, which include conditions such as spondylocarpotarsal synostosis syndrome and Larsen syndrome, characterized by skeletal malformations and joint dislocations.

FLNB

PRSS16 (Serine Protease 16): PRSS16 encodes a serine protease enzyme that plays a key role in protein digestion. This enzyme is essential for breaking down dietary proteins in the stomach and small intestine into smaller peptides and amino acids, which can then be absorbed and used by the body.




PRSS16

CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor that binds C-X-C motif chemokines and plays a key role in directing leukocyte migration to sites of inflammation. It is especially important for recruiting neutrophils, which are vital for the body’s initial defense against infection or injury. Dysregulated CXCR2 signaling is linked to chronic inflammatory conditions such as COPD and asthma, and it also contributes to the tumor-promoting inflammatory environment in cancer. As a result, targeting CXCR2 signaling is a promising therapeutic approach for treating inflammatory diseases and limiting cancer progression.

CXCR2

FMO2 (Flavin Containing Monooxygenase 2): FMO2 is an enzyme that plays a key role in the metabolism of xenobiotics, drugs, and other foreign compounds. Using flavin adenine dinucleotide (FAD) as a cofactor, it helps detoxify nitrogen-containing substances. FMO2 is primarily expressed in the lungs, and genetic variants can affect its activity, influencing individual responses to certain medications and environmental toxins.

FMO2

GRIA1: GRIA1 is a gene that encodes a key subunit of AMPA receptors, which are essential for fast synaptic transmission in the brain. These receptors respond to glutamate, the primary excitatory neurotransmitter in the nervous system. The GRIA1 subunit plays a vital role in synaptic plasticity, which underlies learning and memory. Alterations or mutations in GRIA1 have been linked to neurological disorders such as epilepsy and neurodegenerative diseases, making it an important target in neuroscience research.

GRIA1

AZIN2 (Antizyme Inhibitor 2): AZIN2 is a protein that regulates the activity of ornithine decarboxylase, a key enzyme involved in polyamine biosynthesis. It functions by inhibiting antizyme, which normally downregulates ornithine decarboxylase. Polyamines are essential for cell growth and differentiation, and abnormalities in their metabolism—potentially influenced by AZIN2—have been linked to cancer due to their role in cell proliferation.

AZIN2

ZFAT (Zinc Finger And AT-Hook Domain Containing): ZFAT is a transcription factor involved in regulating gene expression. It is believed to play important roles in immune function and cell survival. ZFAT has been linked to autoimmune diseases and is studied for its role in lymphocyte development and activity.

ZFAT

SOX5 (SRY-Related HMG-Box Gene 5): SOX5 is a member of the SOX family of transcription factors that play a key role in regulating embryonic development and determining cell fate. SOX5 is involved in several biological processes, including chondrogenesis, nervous system development, and the differentiation of various cell types. It functions by binding to DNA and controlling the expression of genes essential for cell growth, development, and specialization. Mutations or dysregulation of SOX5 have been linked to a range of developmental disorders and other pathological conditions.



SOX5

MPPED1 (Metallophosphoesterase Domain Containing 1): MPPED1 is a protein believed to belong to the metallophosphoesterase family, indicating a role in phosphatase activity and metal ion regulation. Its expression in the brain suggests a potential function in neural development and brain activity. Studying MPPED1 may offer valuable insights into neurological processes and disorders, especially those related to metal ion balance and phosphatase functions.



MPPED1

GZMB (Granzyme B): GZMB is a serine protease produced by cytotoxic T lymphocytes and natural killer (NK) cells. It plays a key role in the immune response by inducing apoptosis in virally infected or tumor cells through cleavage of specific intracellular substrates. Proper function of GZMB is essential for effective immune surveillance, and its dysregulation can lead to weakened defense against infections and cancer, highlighting its importance in immune protection and cellular balance.

GZMB

L3MBTL1 (Lethal(3) Malignant Brain Tumor-Like 1): L3MBTL1 is a protein involved in chromatin organization and regulation of gene expression. It plays a role in repressing target genes and is of particular interest in cancer research due to its potential function in tumor suppression.

HERC2

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