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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

PRLR (Prolactin Receptor): PRLR is a receptor for prolactin, a hormone involved in milk production, reproductive functions, and immunoregulation. Upon binding prolactin, PRLR activates signaling pathways that influence cell growth, development, and differentiation. Dysregulation of PRLR signaling has been implicated in breast and other cancers, highlighting its role in cellular proliferation and potential as a therapeutic target....

PRLR

TEF (Thyrotrophic Embryonic Factor): TEF is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family. It is involved in circadian rhythm regulation and plays a role in the expression of clock-controlled genes. TEF is important for maintaining the circadian rhythm in physiological processes, including metabolism and hormone secretion. Dysregulation of TEF can impact circadian rhythm-related disorders and metabolic diseases, highlighting its significance in the synchronization of biological processes with the environmental light-dark cycle....



PRDM8 (PR/SET Domain 8): PRDM8 is a transcription factor involved in neurodevelopment, particularly in the differentiation and function of neurons. It plays a role in the development of the central nervous system and has been implicated in neural disorders....

PRDM8

UBLCP1 (Ubiquitin Like Domain Containing CTD Phosphatase 1): UBLCP1 encodes a protein phosphatase that is involved in the regulation of RNA polymerase II, a key enzyme in the transcription process. Its role in the dephosphorylation of the C-terminal domain of RNA polymerase II highlights its significance in the regulation of gene expression, with implications in various cellular processes and diseases....

UBLCP1

LAX1 (Lymphocyte Transmembrane Adaptor 1): LAX1 is a transmembrane protein that is primarily expressed in lymphocytes. It plays a role in immune cell signaling and activation. LAX1 is involved in the regulation of lymphocyte development and function....



LAX1

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

ZFAT

CNTNAP2, also known as Contactin Associated Protein-Like 2, is a cell adhesion molecule that belongs to the neurexin superfamily. It plays a crucial role in the development and function of the nervous system, particularly in neuronal migration, axon guidance, synaptic formation, and signal transduction. One of the primary functions of CNTNAP2 is its role in neuronal migration and axon guidance during brain development. It is predominantly expressed in the developing nervous system, where it interacts with other cell adhesion molecules, extracellular matrix proteins, and signaling molecules to regulate neuronal migration and axonal pathfinding. Dysregulation of CNTNAP2 expression or function has been...



CNTNAP2

PRSS16 (Serine Protease 16): PRSS16 encodes a serine protease enzyme that is involved in protein digestion and the breakdown of dietary proteins in the digestive system. Serine proteases like PRSS16 are essential for the digestion of proteins in the stomach and small intestine. They play a critical role in breaking down proteins into smaller peptides and amino acids, which can then be absorbed and utilized by the body. ...




PRSS16

HTR5A (5-Hydroxytryptamine Receptor 5A): HTR5A encodes a serotonin receptor. Serotonin receptors are involved in various neurological processes, including mood, appetite, and sleep. HTR5A in particular is thought to play a role in the modulation of serotonin signaling in the brain....

HTR5A

LTBR (Lymphotoxin B Receptor): LTBR stands for Lymphotoxin B Receptor, a protein crucial for the development and organization of lymphoid tissues. This receptor plays a significant role in immune responses, particularly in the formation of lymph nodes and secondary lymphoid organs. Aberrations in LTBR function are linked to autoimmune diseases and have implications in immune system disorders, making it a significant focus in immunological research....

LTBR

PPARG (Peroxisome Proliferator-Activated Receptor Gamma): PPARG is a nuclear receptor that regulates the expression of genes involved in fatty acid storage, glucose metabolism, and adipocyte differentiation. It is a key regulator of insulin sensitivity and is targeted by thiazolidinediones, a class of antidiabetic drugs. Its role in metabolic pathways makes it a significant gene in the study of obesity, diabetes, and cardiovascular disease....

PPARG

LINGO2 (Leucine-Rich Repeat And Ig Domain-Containing 2): LINGO2 is a gene associated with neuronal development and function. It may play a role in axon growth and myelination. Dysregulation of LINGO2 has been implicated in neurological disorders, including Parkinson's disease and essential tremor....

LINGO2

LAMA5 (Laminin Subunit Alpha 5): LAMA5 is part of the laminin protein family, which is crucial for the structure and function of basement membranes in various tissues. Laminins are involved in cell adhesion, differentiation, migration, and signaling. LAMA5 plays a significant role in vascular and neural development and has been studied for its involvement in pathological conditions such as cancer metastasis and fibrosis, where basement membrane integrity and function are disrupted....

LAMA5

LAMA4 (Laminin Subunit Alpha 4): LAMA4 is part of the laminin family, crucial for cell adhesionand the integrity of the extracellular matrix. It plays a significant role in tissue organization, angiogenesis, and has implications in various pathological conditions, including cancer and vascular diseases....

LAMA4

TGFBR2 (Transforming Growth Factor Beta Receptor 2): TGFBR2 is a key component of the TGF-beta signaling pathway, which regulates various cellular processes, including cell growth, differentiation, and immune responses. Mutations in TGFBR2 have been associated with hereditary conditions such as hereditary hemorrhagic telangiectasia (HHT) and can contribute to the development of certain cancers....



TGFBR2

HNF4A (Hepatocyte Nuclear Factor 4 Alpha): HNF4A is a gene crucial for liver development and function. It encodes a transcription factor that plays a central role in regulating the expression of genes involved in liver development, glucose metabolism, and lipid metabolism. Mutations in HNF4A can lead to various metabolic disorders, including maturity-onset diabetes of the young (MODY)....

HNF4A

L3MBTL1 (Lethal(3) Malignant Brain Tumor-Like 1): L3MBTL1 is thought to be involved in chromatin organization and regulation of gene expression. It has been implicated in the repression of target genes and is of interest in cancer research, particularly in relation to its potential role in tumor suppression....

L3MBTL1

PRSS3 (Protease, Serine 3): PRSS3, also known as mesotrypsin, is a serine protease involved in protein digestion and potentially in the degradation of extracellular matrix components. It has been studied in the context of pancreatic function and cancer, as its abnormal expression or activity may contribute to tumor invasion and metastasis....




PRSS3

CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in immune responses. It is primarily found on B cells and antigen-presenting cells. CD40 activation is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can result in immunodeficiency disorders....



CD40

LINGO4 (Leucine Rich Repeat And Ig Domain Containing 4): LINGO4 is a member of the LINGO family and is involved in neural development and regeneration. Its role is not fully understood, but it may be implicated in neurodegenerative diseases and neural repair mechanisms....

LINGO4

CD36 (Cluster of Differentiation 36): CD36 is a multifunctional protein that plays a significant role in fatty acid metabolism, inflammation, and atherogenesis. It acts as a receptor for various ligands including oxidized LDL, fatty acids, and phospholipids. CD36's involvement in lipid metabolism and its role in the development of cardiovascular diseases and metabolic syndrome make it a focus of medical research....



CD36

HMX3 (H6 Family Homeobox 3): HMX3 is a homeobox gene that encodes a transcription factor playing a critical role in early embryonic development, especially in the formation of the nervous system. It is crucial for the development of certain brain regions and sensory organs, such as the inner ear....

HMX3

LMCD1 (LIM and Cysteine-Rich Domains 1): LMCD1 is a gene that encodes a protein involved in cardiac development and function. It plays a significant role in the regulation of gene expression in cardiac muscle cells, influencing heart muscle development and maintenance. Alterations or dysfunctions in LMCD1 have potential implications in cardiovascular diseases, as it may affect heart structure and performance. Its role in cardiomyocytes highlights its importance in understanding cardiac disorders and potential therapeutic targets for heart diseases....

LMCD1

KRT73 (Keratin 73): KRT73 is a gene encoding for a type of keratin, a protein essential for the structural integrity of hair and nails. Specifically, Keratin 73 is involved in hair shaft formation. Mutations or alterations in this gene can lead to hair disorders, particularly affecting the texture and strength of hair. Studies on KRT73 contribute to understanding hair biology and potential treatments for hair-related conditions....

KRT73

KCNK17 (Potassium Channel Subfamily K Member 17): KCNK17 encodes a member of the two-pore domain potassium channel family. It plays a role in ion channel function and may be involved in cellular excitability and membrane potential regulation....

KCNK17

PRSS37 (Protease, Serine 37): PRSS37 is a gene encoding a serine protease enzyme, which plays a role in reproductive physiology. Its exact function is still being elucidated, but it's thought to be important in sperm maturation and fertility. Mutations in PRSS37 have been associated with male infertility, making it a key gene in reproductive health research....




PRSS37

LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule that is primarily expressed in the limbic system of the brain. It plays a role in synaptic plasticity and is involved in neural development and function. LSAMP has been studied in the context of neuropsychiatric disorders and may have implications in conditions like schizophrenia....

LSAMP

CD200R1 (Cluster of Differentiation 200 Receptor 1): CD200R1, a member of the immunoglobulin superfamily, serves as a crucial regulator of immune responses and cellular interactions. This receptor is prominently expressed on various immune cells, including macrophages, dendritic cells, and B cells. Its primary ligand, CD200, is expressed on a wide array of cell types, functioning as a suppressive signal to modulate immune activity. CD200R1's engagement with CD200 initiates inhibitory signaling cascades, resulting in the suppression of inflammatory responses and the promotion of immune tolerance. Furthermore, CD200R1 signaling has been implicated in the maintenance of immune homeostasis and the prevention of...



CD200R1

TBX2 (T-Box Transcription Factor 2): TBX2 encodes a transcription factor that belongs to the T-box family. It plays a role in embryonic development and tissue differentiation, particularly in the development of the heart and limb formation....



TBX2

KCNJ3 (Potassium Voltage-Gated Channel Subfamily J Member 3): KCNJ3, also known as GIRK1 (G protein-activated inwardly rectifying potassium channel 1), is involved in regulating neuronal excitability and heart rate. By controlling potassium ion flow, KCNJ3 contributes to the stabilization of the resting membrane potential and the modulation of action potential in neurons and cardiac muscle cells. Dysregulation of KCNJ3 has been implicated in neurological disorders, such as epilepsy and mood disorders, and cardiovascular diseases, highlighting its role in maintaining electrical stability in the brain and heart....

KCNJ3

PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1): PRTFDC1 is an enzyme involved in the purine salvage pathway, which recycles purines from degraded DNA and RNA to synthesize new nucleotides. Its role in nucleotide metabolism suggests it could be important for cell proliferation and DNA repair processes. Alterations in the purine salvage pathway can affect cellular energy balance and genomic stability, with potential implications for metabolic disorders and susceptibility to DNA damage....




PRTFDC1

TCF4 (Transcription Factor 4): TCF4 is a transcription factor that plays an important role in the development of the nervous system. It is involved in neurodevelopmental processes and has been linked to psychiatric disorders, including schizophrenia. TCF4's role in gene regulation is crucial for proper brain development and function....



TCF4

TBKBP1 (TANK-Binding Kinase 1 Binding Protein 1): TBKBP1, also known as SINTBAD, is a scaffold protein involved in the regulation of innate immunity and inflammatory responses. It interacts with TBK1 and IKKε kinases, playing a crucial role in antiviral responses and the production of type I interferons. TBKBP1's role in modulating immune signaling pathways highlights its importance in immune defense and its potential as a therapeutic target in inflammatory and autoimmune diseases....



TBKBP1

HTR2C (5-Hydroxytryptamine Receptor 2C): HTR2C is a serotonin receptor subtype implicated in the regulation of mood, appetite, and sexual behavior. It plays a role in various CNS functions and is a target for certain psychiatric medications. Dysfunctions or genetic variations in HTR2C have been linked to psychiatric conditions, including depression, anxiety, and schizophrenia, as well as to metabolic disorders....

HTR2C

TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine involved in cell growth, proliferation, differentiation, and apoptosis. It plays a critical role in embryonic development and tissue repair and has been implicated in various diseases, including cancer and fibrotic diseases....



TGFB2

KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11): KCNJ11 encodes a protein that forms part of the ATP-sensitive potassium (KATP) channel in pancreatic beta cells. KATP channels play a role in insulin secretion and glucose homeostasis. Variations in KCNJ11 are associated with an increased risk of type 2 diabetes....

KCNJ11

LONP2 (Lon Peptidase 2, Mitochondrial): LONP2 encodes a mitochondrial protease that is crucial for mitochondrial function and maintenance. It helps in the degradation of damaged or misfolded mitochondrial proteins, thus playing a key role in mitochondrial quality control. Impairments in LONP2 function can lead to mitochondrial disorders and contribute to aging-related diseases....

LONP2

TBC1D8B (TBC1 Domain Family Member 8B): TBC1D8B is part of the TBC1 domain family, known for their role in intracellular trafficking and signaling. This gene is involved in the regulation of membrane trafficking and may have implications in cellular transport processes. Understanding TBC1D8B can provide insights into cellular homeostasis and diseases related to intracellular transport dysfunction....



TBC1D8B

THNSL2 (Threonine Synthase-Like 2): THNSL2 is an enzyme potentially involved in amino acid metabolism, specifically in the synthesis of threonine. The exact role and significance of this enzyme in human metabolism and disease are not yet fully understood....



THNSL2

TCF19 (Transcription Factor 19): TCF19 is a transcription factor involved in cell cycle regulation. It plays a role in the control of cell proliferation and may be implicated in the response to DNA damage. Its dysfunction or dysregulation can have implications in various cancers, highlighting its importance in cell biology and oncology....



TCF19

ILRUN, also known as interleukin-like RUN domain-containing protein, is a recently discovered protein that plays a role in immune regulation. Positioned within the cytoplasm of cells, ILRUN contains a RUN domain, which is known to be involved in protein-protein interactions. Although the exact function of ILRUN is still being elucidated, initial studies suggest its involvement in modulating immune responses. It is hypothesized that ILRUN may interact with other proteins involved in immune signaling pathways, potentially influencing cytokine production, immune cell activation, or inflammatory processes. Moreover, ILRUN has been identified as a potential biomarker in certain immune-related disorders or inflammatory conditions. Changes in...

ILRUN

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 encodes an enzyme involved in the synthesis of ketone bodies, which are alternative energy sources produced during periods of fasting or low carbohydrate intake. It plays a role in energy metabolism and is primarily expressed in the liver....

HMGCS2

LPA (Lysophosphatidic Acid): Lysophosphatidic acid (LPA) is a bioactive lipid molecule that serves as a potent signaling mediator involved in various physiological processes, including cell proliferation, migration, and survival. It exerts its effects by binding to specific G protein-coupled receptors, known as LPA receptors, present on the cell membrane. LPA is generated through the enzymatic hydrolysis of phospholipids, particularly phosphatidic acid, by phospholipase enzymes. In addition to its roles in normal cellular functions, LPA has been implicated in numerous pathological conditions, including cancer, fibrosis, and cardiovascular diseases. Its ability to promote cell proliferation and migration makes it a key player in...

PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B): PPP1R3B regulates the activity of protein phosphatase 1, which is involved in glycogen metabolism. It plays a role in controlling glycogen storage in the liver and is implicated in glucose homeostasis and metabolic disorders....




PPP1R3B

PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17): PPP1R17 encodes a protein that serves as a regulatory subunit of protein phosphatase 1 (PP1). PP1 is involved in the dephosphorylation of target proteins and plays a critical role in cell signaling, metabolism, and cell cycle regulation. PPP1R17 likely modulates the specificity and activity of PP1, impacting various cellular processes....

PPP1R17

STARD5 (StAR-Related Lipid Transfer Domain Containing 5): STARD5 is part of the START domain family, involved in the transport and distribution of lipids within cells. It plays a role in regulating lipid metabolism and homeostasis, particularly in the liver and gastrointestinal tract. Although the specific functions of STARD5 are still being explored, its role in lipid transport suggests implications for metabolic disorders and diseases involving lipid dysregulation....



STARD5

TCF12 (Transcription Factor 12): TCF12 is a member of the basic helix-loop-helix (bHLH) transcription factor family, involved in the regulation of gene expression during development and differentiation, particularly in the nervous system and muscle tissue. TCF12 plays a critical role in cell fate decisions, tissue development, and differentiation. Mutations in TCF12 are linked to craniosynostosis, a condition characterized by the premature fusion of skull bones, indicating its importance in craniofacial development. Understanding TCF12's function provides insights into developmental biology and the genetic basis of congenital disorders....



TCF12

THRB (Thyroid Hormone Receptor Beta): THRB encodes a receptor for thyroid hormones, which are crucial for regulating metabolism, development, and growth. Mutations in THRB can lead to resistance to thyroid hormone (RTH), a condition characterized by impaired sensitivity to thyroid hormones, affecting growth and metabolic processes....



THRB

LRRN2 (Leucine Rich Repeat Neuronal 2): LRRN2 is part of the leucine-rich repeat family of proteins, which are involved in protein-protein interactions and play critical roles in cell adhesion, signaling, and neuronal development. LRRN2 is expressed in various regions of the brain and is thought to contribute to neural circuit formation and synaptic differentiation. Its function in neural development and plasticity suggests a potential role in neurological disorders, though specific implications remain to be fully elucidated....

LRRN2

IL6 (Interleukin 6): IL6, a cytokine with an influential role in the immune response and inflammation, commands the body's defenses in the face of infection and injury. This sentinel of the immune system regulates the orchestration of inflammation and the deployment of immune cells to combat invaders. Researchers in the realm of immunology delve deep into IL6's intricate web of interactions, seeking to decipher its contributions to both health and inflammatory diseases....

LPIN2 (Lipin 2): LPIN2 is crucial for lipid metabolism and energy production, playing a significant role in the conversion of phosphatidic acid to diacylglycerol, a key step in triglyceride and phospholipid synthesis. It's also involved in the regulation of gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are associated with Majeed syndrome, characterized by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anemia, highlighting its importance in both metabolic processes and immune regulation....

LPIN2

PCDH7 (Protocadherin 7): PCDH7, a member of the cadherin superfamily, is involved in cell adhesion and neuronal connectivity. It plays a role in the development of the nervous system and in maintaining synaptic functions. Genetic studies have linked PCDH7 to neurodevelopmental disorders and potentially to psychiatric conditions, reflecting its importance in brain development and function....




PCDH7

TIAM2, also known as T-lymphoma invasion and metastasis-inducing protein 2, is a critical member of the TIAM family of guanine nucleotide exchange factors (GEFs). Positioned primarily within the cytoplasm of cells, TIAM2 plays a pivotal role in regulating cellular processes, particularly those related to cytoskeletal dynamics, cell migration, and invasion. One of the distinctive features of TIAM2 is its ability to act as a molecular switch for the activation of Rho GTPases, particularly Rac1. Through its GEF activity, TIAM2 catalyzes the exchange of GDP for GTP on Rac1, leading to the activation of downstream signaling pathways involved in actin cytoskeleton rearrangements...



TIAM2

KNDC1 (Kinase Non-Catalytic C-Lobe Domain Containing 1): KNDC1 is a gene associated with kinase domains but is considered non-catalytic, meaning it does not have enzymatic kinase activity. Its precise functions and roles in cellular processes are still being elucidated, and further research is needed to understand its contributions to cell biology....

KNDC1

LRAT (Lecithin Retinol Acyltransferase): LRAT is essential for the metabolism of vitamin A, catalyzing the esterification of all-trans-retinol into all-trans-retinyl esters, a storage form of vitamin A. This process is crucial for vision, immune function, and cellular differentiation. Deficiencies or mutations in LRAT can lead to retinal diseases and impairments in immune response, emphasizing its role in vitamin A homeostasis and overall health....

LRAT

RBMS3 (RNA Binding Motif, Single-Stranded Interacting Protein 3): RBMS3 is a gene that encodes a protein involved in RNA binding and regulation of gene expression. It is implicated in cell adhesion and tissue development. Alterations in RBMS3 have been linked to various types of cancer, including gastric and lung cancer....

RBMS3

PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 activation influences various cellular functions, including immune cell activation and cytokine production. It plays a role in modulating inflammation and has been studied in the context of autoimmune and inflammatory diseases....

PTGER4

PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB encodes a catalytic subunit of protein phosphatase 1, a key enzyme in the regulation of cellular processes through dephosphorylation. This enzyme plays a vital role in various cellular functions, including muscle contraction, glycogen metabolism, and cell division. Abnormalities in PPP1CB activity are implicated in several diseases, including cardiac disorders and cancer....




PPP1CB

PTHLH (Parathyroid Hormone Like Hormone): PTHLH plays a role in bone and cartilage development and is involved in the regulation of bone remodeling. It acts similarly to parathyroid hormone and is important in maintaining calcium homeostasis....

PTHLH

TCERG1L (Transcription Elongation Regulator 1-Like): TCERG1L is involved in the regulation of gene transcription, particularly in the elongation phase of RNA polymerase II transcription. This process is critical for the accurate expression of genes. TCERG1L influences the transcription of specific genes, impacting various cellular processes, including development and response to stress. Understanding its role helps elucidate the complexities of gene regulation and its implications for diseases related to transcriptional dysregulation....



TCERG1L

PTPMT1 (Protein Tyrosine Phosphatase, Mitochondrial 1): PTPMT1 is a mitochondrial phosphatase involved in the regulation of lipid metabolism and mitochondrial function. It plays a key role in the biosynthesis of cardiolipin, a phospholipid essential for mitochondrial membrane integrity and energy production. Dysregulation of PTPMT1 has implications for metabolic diseases and is being investigated for its role in cancer metabolism, highlighting its importance in cellular energy homeostasis and disease....




PTPMT1

PTPN22 (Protein Tyrosine Phosphatase, Non-Receptor Type 22): PTPN22 is a lymphoid-specific phosphatase that plays a critical role in regulating immune responses by modulating T-cell receptor signaling. It acts as a negative regulator of T-cell activation, maintaining immune tolerance and preventing autoimmunity. Genetic variations in PTPN22 have been associated with an increased risk of several autoimmune diseases, including rheumatoid arthritis, type 1 diabetes, and systemic lupus erythematosus, highlighting its importance in immune regulation and autoimmunity....




PTPN22

PTPN7 (Protein Tyrosine Phosphatase, Non-Receptor Type 7): PTPN7 is an enzyme involved in cell signaling, particularly in the immune system. It plays a crucial role in the regulation of T-cell activation and differentiation, impacting immune responses. Dysregulation of PTPN7 can lead to immune-related disorders and has potential implications in autoimmune diseases and cancer due to its influence on cell signaling pathways....

PTPN7

LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene involved in neural development, particularly in the formation and maintenance of neural connections. It encodes a protein that belongs to the leucine-rich repeat family, which is important in protein-protein interactions. LRRN1 is significant in understanding neural development and may be implicated in neurodevelopmental disorders....

LRRN1

TCB2N (Testis and Ciliary Pathway 2 Neighbor): TCB2N is a less characterized gene, potentially involved in testicular function and ciliary processes. Given its name, it may play a role in spermatogenesis or ciliary movement, but its exact functions and implications in human physiology remain to be elucidated....



TCB2N

PTPRC (Protein Tyrosine Phosphatase, Receptor Type C): PTPRC, also known as CD45, is a key regulator in the immune system. It's a transmembrane protein tyrosine phosphatase essential for activating T and B lymphocytes. PTPRC's role in modulating signal transduction pathways makes it crucial for the immune response, and dysregulation can lead to immune disorders....




PTPRC

PCCB (Propionyl-CoA Carboxylase Beta Chain): PCCB is an enzyme involved in the metabolism of certain amino acids, fatty acids, and cholesterol. Mutations in PCCB can lead to propionic acidemia, a rare metabolic disorder characterized by the accumulation of toxic substances in the body, leading to various neurological and systemic symptoms....

PCCB

TJP1 (Tight Junction Protein 1): TJP1 is crucial for the formation and maintenance of tight junctions in epithelial and endothelial cells. It plays a role in cell polarity and barrier formation, important for tissue integrity and function. Alterations in TJP1 are associated with various diseases, including cancers and barrier dysfunction disorders....



TJP1

RBM17 (RNA Binding Motif Protein 17): RBM17 is involved in RNA splicing, a critical process in gene expression. It plays a role in the regulation of alternative splicing, influencing the diversity of proteins that can be produced from a single gene. Alterations in RBM17 have potential implications in various diseases, including cancer, where dysregulation of splicing can affect cell growth and survival....




RBM17

POCD5 (Postoperative Cognitive Dysfunction 5): POCD5 is a gene associated with postoperative cognitive dysfunction, which is a condition characterized by cognitive decline following surgery. The specific mechanisms and factors contributing to this condition are areas of ongoing research....




POCD5

LRRC7 (Leucine Rich Repeat Containing 7): This gene encodes a protein that is thought to be involved in synaptic functions in the brain. Its role is particularly noted in dendritic spines, structures vital for synaptic transmission and plasticity. Alterations in LRRC7 have been linked to neurological conditions, highlighting its importance in brain development and function....

LRRC7

TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA, playing a key role in active DNA demethylation. This process is crucial for the regulation of gene expression, cellular differentiation, and the maintenance of genomic stability. Mutations in TET2 are commonly found in various hematological malignancies, such as myelodysplastic syndromes and acute myeloid leukemia, implicating TET2 in epigenetic regulation and the pathogenesis of cancer....



TET2

LRATD1 (Lecithin Retinol Acyltransferase Domain Containing 1): LRATD1 is a gene that encodes a protein with a domain similar to lecithin retinol acyltransferase (LRAT), which is involved in vitamin A metabolism. The specific functions of LRATD1 and its role in vitamin A metabolism are areas of ongoing research....

LRATD1

TAFA3 (TAFA Chemokine Like Family Member 3): TAFA3 is part of a family of proteins that are similar to chemokines, involved in immune responses and inflammatory processes. The specific role of TAFA3 is not well understood, but it is thought to be involved in the regulation of immune cell activity and may play a role in neuroinflammation....



TAFA3

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. The specific functions of TENT5A and its relevance to cellular processes are areas of ongoing research....



TENT5A

LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN family of proteins, involved in neuronal development and synaptic function. It may play a role in the formation and maintenance of neural circuits, and dysfunctions in LRFN5 are potential contributors to neurodevelopmental disorders....

LRFN5

LGALS14 (Galectin 14): LGALS14, or galectin 14, is part of the galectin family, proteins that bind beta-galactoside sugars and are involved in modulating cell-cell and cell-matrix interactions. Galectin 14 is expressed predominantly in the placenta and plays a role in immune response regulation and fetal-maternal tolerance. Its expression and function are critical for pregnancy success, and abnormalities in LGALS14 have been associated with pregnancy-related complications, such as pre-eclampsia and intrauterine growth restriction, highlighting its role in reproductive health....

LGALS14

TBX3 (T-Box Transcription Factor 3): TBX3 is a critical transcription factor involved in embryonic development, playing roles in the regulation of organogenesis, including limb, heart, and mammary gland development. Mutations or dysregulation of TBX3 can lead to developmental disorders, such as ulnar-mammary syndrome. TBX3 is also implicated in cancer development, where it can act as a transcriptional repressor to inhibit cell senescence and promote proliferation....



TBX3

PTPRJ (Protein Tyrosine Phosphatase, Receptor Type J): PTPRJ is a member of the protein tyrosine phosphatase (PTP) family, enzymes that regulate cellular processes by dephosphorylating tyrosine residues on proteins. PTPRJ negatively regulates cell proliferation and is involved in cell signaling pathways that control cell growth and differentiation. It acts as a tumor suppressor in several types of cancers by inhibiting pathways that lead to uncontrolled cell growth. Loss of PTPRJ function has been linked to enhanced tumor growth and progression, emphasizing its role in cancer biology....

PTPRJ

LYZ (Lysozyme): LYZ is an enzyme that plays a key role in the innate immune system by hydrolyzing the peptidoglycan layer of bacterial cell walls, leading to bacterial lysis. It is abundant in a variety of secretions, such as saliva, tears, and milk, and in granules of neutrophils. Beyond its antibacterial properties, LYZ has been studied for its role in modulating inflammation and its potential therapeutic applications in treating infections and inflammatory diseases....

PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a member of the protein tyrosine phosphatase family, which plays a pivotal role in cell signaling. PTPRT is involved in the regulation of various cellular processes, including cell growth and differentiation. Mutations in PTPRT have been implicated in several cancers, particularly colorectal cancer, due to its role in signal transduction pathways that control cell proliferation....

PTPRT

LEPR (Leptin Receptor): LEPR is the receptor for the hormone leptin. It's critical in regulating energy intake and expenditure, including appetite and metabolism. Mutations in LEPR can lead to leptin resistance, a condition often observed in obesity, where the body does not adequately respond to leptin signals....

LEPR

TLR4 (Toll-Like Receptor 4): TLR4 is a part of the toll-like receptor family, crucial for the innate immune system. It recognizes bacterial lipopolysaccharides and plays a key role in activating the immune response to pathogens. Dysregulation of TLR4 has been linked to a variety of diseases, including sepsis, atherosclerosis, and certain autoimmune disorders....



TLR4

PRKG1 (Protein Kinase, cGMP-Dependent, Type I): PRKG1 is a serine/threonine-specific protein kinase that plays a crucial role in various cellular processes mediated by cyclic guanosine monophosphate (cGMP). Acting as a key effector of cGMP signaling, PRKG1 is involved in the regulation of vascular smooth muscle tone, platelet function, and cardiac contractility, contributing significantly to cardiovascular homeostasis. Its activation leads to the phosphorylation of target proteins, which in turn modulates cellular functions such as relaxation of smooth muscle cells, protection against myocardial damage, and inhibition of platelet aggregation. PRKG1's activity is implicated in the pathophysiology of cardiovascular diseases, including hypertension and...

PRKG1

PVR (Poliovirus Receptor): PVR, also known as the poliovirus receptor, is a transmembrane glycoprotein crucial for viral entry and infection by certain viruses, including poliovirus and related enteroviruses. Beyond its role as a viral receptor, PVR plays essential roles in cell-cell adhesion, immune response modulation, and tissue homeostasis. It serves as a key component of adherens junctions and tight junctions, contributing to the integrity of epithelial and endothelial barriers. Additionally, PVR interactions with its ligands, such as TIGIT and DNAM-1, regulate immune cell activation and function, impacting both innate and adaptive immune responses. Dysregulation of PVR expression or function has...

PWWP3B (PWWP Domain Containing 3B): PWWP3B is a gene involved in chromatin organization and gene regulation. The PWWP domain suggests a role in epigenetic regulation. Dysfunction in PWWP3B could potentially be linked to developmental disorders and cancers, given its role in gene expression regulation....




PWWP3B

TMEM106B (Transmembrane Protein 106B): TMEM106B is implicated in lysosomal function and neuronal health. Variants in TMEM106B have been associated with neurodegenerative diseases, including frontotemporal lobar degeneration. Its role in neuronal function and maintenance, as well as in lysosomal homeostasis, makes it a protein of interest in studying mechanisms underlying neurodegeneration....



TMEM106B

LEP (Leptin): LEP encodes the hormone leptin, which is produced by adipose tissue and plays a key role in regulating energy balance and appetite. Leptin acts on the hypothalamus in the brain to inhibit appetite and stimulate energy expenditure. Dysregulation of leptin or its receptor leads to obesity and metabolic disorders, as it is crucial in the homeostatic control of body weight and fat storage....

TMEM116 (Transmembrane Protein 116): TMEM116 is a transmembrane protein that spans the cell membrane, belonging to a family of proteins involved in diverse cellular processes. While its specific function is still being elucidated, TMEM116 is implicated in cellular transport and signaling pathways within the cell. It likely plays a role in membrane dynamics, possibly participating in vesicle trafficking or ion channel regulation. Although its exact mechanism of action remains to be fully understood, emerging research suggests its involvement in cellular homeostasis and intracellular communication. Dysregulation of TMEM116 expression or function may have implications for various physiological processes and could potentially...



TMEM116

LRRC3B (Leucine Rich Repeat Containing 3B): LRRC3B is involved in cell adhesion and communication. It is known for its potential tumor suppressor activity, particularly in gastric cancer. The gene's function is crucial in maintaining the integrity of cell-to-cell interactions and signaling....

LRRC3B

TLR1 (Toll-Like Receptor 1): TLR1 is part of the toll-like receptor family, crucial in the innate immune system. It recognizes pathogen-associated molecular patterns and helps initiate immune responses. Variations in TLR1 can influence susceptibility to infectious diseases....



TLR1

PRKCE, also known as Protein Kinase C Epsilon, is a vital enzyme belonging to the family of protein kinase C (PKC) isoforms. This particular isoform plays a pivotal role in various cellular processes, including cell proliferation, differentiation, apoptosis, and signal transduction. PRKCE is predominantly found in the cytoplasm of cells, where it exerts its regulatory functions by phosphorylating target proteins. One of the distinguishing features of PRKCE is its involvement in signal transduction pathways, where it acts as a crucial mediator in transmitting extracellular signals to intracellular targets. Through its kinase activity, PRKCE modulates the activity of downstream effector proteins, thereby...

PRKCE

LRRC42, short for Leucine-rich repeat-containing protein 42, is a member of the leucine-rich repeat (LRR) protein family, characterized by its unique structural motif composed of repeating sequences rich in leucine residues. Positioned predominantly within the cytoplasm or on the cell membrane, LRRC42 plays various roles in cellular processes, including signal transduction, protein-protein interactions, and cell adhesion. One of the distinctive features of LRRC42 is its involvement in protein-protein interactions mediated by its leucine-rich repeat domains. These domains serve as interaction interfaces, allowing LRRC42 to bind to specific partner proteins involved in diverse cellular pathways. By participating in these interactions, LRRC42 can...

LRRC42

TLN2 (Talin 2): TLN2 encodes the talin 2 protein, which is involved in integrin-mediated signaling pathways and plays a key role in cell adhesion, migration, and signaling. Its importance is underscored in the formation and stabilization of integrin-mediated cell adhesions, with implications in various cellular processes, including immune responses and cancer metastasis....



TLN2

TENM4 (Teneurin Transmembrane Protein 4): TENM4 is a member of the teneurin family, involved in neuronal development and function. It plays a role in cell-cell adhesion and communication in the nervous system and has been implicated in developmental processes and neurological disorders....



TENM4

RAD9A (RAD9 Homolog A): RAD9A is involved in DNA repair and cell cycle checkpoint control. It plays a role in maintaining genomic stability and preventing the proliferation of damaged cells. Dysregulation of RAD9A can impact DNA repair processes and contribute to genomic instability....

RAD9A

PTPRD (Protein Tyrosine Phosphatase Receptor Type D): PTPRD is a protein tyrosine phosphatase receptor that is involved in cell signaling and regulation. It plays a role in modulating various cellular processes by dephosphorylating specific protein substrates. PTPRD has been studied in the context of cancer, where it can act as a tumor suppressor....




PTPRD

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 encodes a protein associated with the nuclear envelope and is involved in nuclear structure and organization. Mutations in LEMD3 have been linked to the rare genetic disorder known as Buschke-Ollendorff syndrome, which affects bone and skin....

LEMD3

RGS18 (Regulator of G Protein Signaling 18): RGS18 is involved in the regulation of G protein-coupled receptor signaling, specifically influencing signaling in hematopoietic cells. It plays a role in platelet function and immune responses, with its dysregulation potentially impacting blood coagulation and immune system disorders....

RGS18

LYRM7 (LYR Motif Containing 7): LYRM7 is a component of the mitochondrial complex I assembly, playing a crucial role in the mitochondrial respiratory chain. This complex is essential for cellular energy production through oxidative phosphorylation. Mutations or dysregulation in LYRM7 can lead to mitochondrial dysfunction, contributing to a range of metabolic and degenerative diseases, including mitochondrial disorders and neurodegenerative conditions. Its role in energy metabolism highlights its importance in maintaining cellular function and viability....

FERD3L

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