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The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.

<p>The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.</p>

DNA Immunity & Inflammation Test

WDFY2 (WD Repeat and FYVE Domain Containing 2): WDFY2 is a protein involved in endosomal sorting and trafficking. It contains both WD repeats and an FYVE domain, suggesting a role in vesicle-mediated transport processes and potentially in signaling pathways involving membrane dynamics. The specific functions of WDFY2 in cellular processes and its implications in human health and disease are still under investigation....

WDFY2

STMN3 (Stathmin 3): STMN3 is a microtubule-destabilizing protein that plays a role in regulating microtubule dynamics, which is essential for processes such as cell division, intracellular transport, and cell motility. In neurons, STMN3 is involved in the regulation of axonal growth and synaptic function, and its dysregulation has implications for neurodevelopmental and neurodegenerative disorders....



STMN3

PNKD (PNKD Serine/Threonine Kinase): PNKD is a gene that encodes a serine/threonine kinase, a type of enzyme involved in phosphorylation reactions. Mutations in the PNKD gene have been linked to a neurological disorder known as paroxysmal nonkinesigenic dyskinesia (PNKD). PNKD is characterized by sudden and involuntary movements, and the PNKD gene's function appears to be crucial in maintaining proper neuronal activity and movement control....

PNKD

UBE2G1 (Ubiquitin-conjugating Enzyme E2 G1): UBE2G1 is a member of the ubiquitin-conjugating enzyme family, playing a pivotal role in the ubiquitin-proteasome system, a fundamental cellular pathway responsible for protein degradation and turnover. Specifically, UBE2G1 functions in the conjugation of ubiquitin molecules to target proteins, marking them for degradation by the proteasome. This enzymatic process is crucial for regulating various cellular functions, including cell cycle progression, DNA repair, and signal transduction. UBE2G1's activity is tightly regulated and orchestrated in concert with other components of the ubiquitin-proteasome system to ensure proper protein homeostasis and cellular function. Dysregulation of UBE2G1 has been implicated...




UBE2G1

GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor essential for the development and differentiation of red blood cells and platelets. It regulates genes critical for cell cycle and apoptosis, ensuring a balance between cell growth and maturation. Dysregulation of GFI1B is linked to blood disorders like anemia and thrombocytopenia, and it plays a role in leukemia development. Its function is pivotal in maintaining hematopoietic cell balance and underscores the complexity of blood cell production....

GFI1B

FOXP1

TOMM40 (Translocase of Outer Mitochondrial Membrane 40): TOMM40 is a key protein involved in mitochondrial biology, specifically in the process of protein import into the mitochondria. As a component of the TOM complex, TOMM40 facilitates the translocation of nuclear-encoded proteins across the outer mitochondrial membrane, where they can fulfill various essential functions within the mitochondria. This protein is particularly notable for its association with Alzheimer's disease, as certain variants of TOMM40 have been implicated in modulating the risk and age of onset of the disease. Beyond Alzheimer's, TOMM40 has been implicated in other neurodegenerative disorders and age-related cognitive decline, underscoring...

TOMM40

SRPK2 (SRSF Protein Kinase 2): SRPK2 is involved in the phosphorylation of serine/arginine-rich proteins that are part of the spliceosome, influencing alternative splicing and gene expression. It plays roles in neuronal function and may be implicated in neurodegenerative diseases through its effects on splicing regulation. Research on SRPK2 aims to understand its contribution to the pathogenesis of diseases like Alzheimer's and its potential as a therapeutic target....




SRPK2

FBXO21 (F-Box Protein 21): FBXO21 is part of the F-box protein family, key components in the ubiquitin-proteasome system, which regulates protein degradation. This gene plays a crucial role in various cellular processes, including cell cycle regulation and signal transduction. Dysregulation of FBXO21 can lead to disorders in protein homeostasis, making it significant in the study of diseases where protein turnover is disrupted, such as neurodegenerative diseases and cancers....

FBXO21

SLC38A11 (Solute Carrier Family 38 Member 11): SLC38A11 is involved in amino acid transport and nutrient sensing. It plays a role in the regulation of mTORC1 signaling, which is important for cell growth and metabolism....



SLC38A11

RAB1A (RAB1A, Member RAS Oncogene Family): RAB1A is part of the RAB family of small GTPases, which regulate various aspects of vesicle trafficking. RAB1A is specifically involved in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Its role is crucial for maintaining efficient protein transport and processing within the cell....




RAB1A

URAD (Ureidoimidazole-4-Carboxamide Ribonucleotide Decarboxylase): URAD is involved in the de novo synthesis of purine nucleotides, which are essential for DNA and RNA production. It plays a role in nucleotide metabolism and is critical for cell proliferation and growth....

URAD

NECTIN2 (Nectin Cell Adhesion Molecule 2): NECTIN2, also known as CD112, is a transmembrane cell adhesion molecule that belongs to the nectin family. It plays a pivotal role in mediating cell-cell adhesion and is predominantly expressed in epithelial and neuronal tissues. NECTIN2 functions as a homophilic and heterophilic adhesion molecule, interacting with other nectins and nectin-like proteins, as well as with receptors on neighboring cells, such as DNAM-1 (CD226), CD96, and TIGIT. Through these interactions, NECTIN2 contributes to the formation and maintenance of adherens junctions and synaptic connections, thereby regulating processes such as cell migration, polarization, and synaptic transmission. Dysregulation...

NECTIN2

RELN (Reelin): RELN encodes a large secreted extracellular matrix protein named reelin, which is crucial for neuronal migration and positioning during brain development. It affects the layering of neurons in the cerebral cortex and cerebellum. Mutations or alterations in RELN expression have been implicated in several neuropsychiatric disorders, including autism, schizophrenia, and bipolar disorder. Reelin also plays a role in synaptic plasticity in the adult brain, impacting learning and memory....

RELN

FCHO2 (FCH Domain Only 2): FCHO2 is involved in the process of clathrin-mediated endocytosis, a key mechanism for internalizing substances from the cell surface. It plays a role in vesicle formation and trafficking within cells. Dysregulation of FCHO2 can affect cellular uptake processes and has potential implications in various cellular dysfunctions....

FCHO2

EHD3 (EH-Domain Containing 3): EHD3 is a member of the EHD protein family, involved in endocytic recycling. It plays a significant role in the trafficking and recycling of membrane proteins back to the plasma membrane, ensuring proper cell surface composition and signaling. EHD3's function in membrane trafficking is critical for cardiovascular health, and its dysregulation has been associated with heart diseases, highlighting its importance in cardiac muscle cell function....

EHD3

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

ALDH2 (Aldehyde Dehydrogenase 2 Family Member): ALDH2 is crucial in alcohol metabolism, converting acetaldehyde to acetic acid. Variants, particularly common in East Asian populations, can lead to alcohol intolerance and are associated with an increased risk of certain cancers and cardiovascular diseases....

ALDH2

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

EXD3: EXD3, or Exonuclease 3'-5' Domain Containing 3, is a gene that is not as widely known or studied as some other genes, but it plays a significant role in cellular processes. The protein encoded by the EXD3 gene is thought to be involved in RNA processing and the regulation of gene expression. Although the full range of functions of EXD3 is still under investigation, it is believed to be crucial in maintaining the stability and integrity of RNA, which is essential for the proper functioning of cells. Mutations or alterations in EXD3 could potentially impact various biological pathways and...

EXD3

COPS9 (COP9 Signalosome Subunit 9): COPS9 is part of the COP9 signalosome, a complex that regulates protein degradation and is involved in various cellular processes, including cell cycle control, signal transduction, and DNA repair. The COP9 signalosome acts by modulating the activity of the ubiquitin-proteasome system, influencing the stability of a wide range of proteins. COPS9's role in this complex underscores its importance in maintaining cellular homeostasis and its potential involvement in the development of diseases when these processes are dysregulated....



COPS9

GSK3B (Glycogen Synthase Kinase 3 Beta): GSK3B is a kinase involved in numerous cellular processes, including glycogen metabolism, cell cycle regulation, and neuronal function. It's implicated in the development of diseases like Alzheimer's and is a target for certain psychiatric medications....

GSK3B

CAMKMT (Calmodulin-Lysine N-Methyltransferase): CAMKMT is an enzyme that methylates calmodulin, a protein involved in calcium signaling. This methylation is important for the regulation of calmodulin’s interaction with target proteins, affecting various calcium-dependent cellular processes, including muscle contraction, cell division, and memory formation....



CAMKMT

DCDC2 (Doublecortin Domain Containing 2): DCDC2 is associated with neuronal migration and differentiation, particularly in the developing brain. It has been implicated in dyslexia and other learning disabilities, suggesting its role in cognitive processing and language development....

DCDC2

MYH11 (Myosin Heavy Chain 11): MYH11 encodes a smooth muscle myosin heavy chain, a key component of the contractile apparatus in smooth muscle cells. This protein plays a pivotal role in the contraction and relaxation of smooth muscle fibers, which is fundamental to various physiological processes, including vascular regulation, gastrointestinal motility, and respiratory function. MYH11 is essential for maintaining the structural integrity and function of smooth muscle tissues across the body. Mutations or dysregulation in the MYH11 gene can lead to a range of vascular disorders, including thoracic aortic aneurysms and dissections, highlighting its critical role in vascular health. The...

MYH11

KCNIP4, also known as Kv channel-interacting protein 4, belongs to the family of Kv channel-interacting proteins (KCNIPs), also known as Kv channel regulatory proteins (KCHIPs). These proteins are associated with voltage-gated potassium (Kv) channels and modulate their function. One of the primary functions of KCNIP4 is its role in regulating the properties of Kv channels. Kv channels are integral membrane proteins that play a crucial role in controlling the electrical activity of cells by regulating the flow of potassium ions across cell membranes. KCNIP4 interacts with Kv channels and modulates their gating kinetics, voltage dependence, and trafficking to the cell membrane,...

KCNIP4

UST (Uronyl 2-Sulfotransferase): UST is an enzyme involved in the sulfation of proteoglycans, which are important components of the extracellular matrix. It plays a role in various biological processes, including cell signaling and tissue repair. Dysregulation of UST activity can impact connective tissue function and may be relevant in disorders involving the extracellular matrix....

EIF3M (Eukaryotic Translation Initiation Factor 3 Subunit M): EIF3M is a component of the eukaryotic translation initiation factor 3 (eIF3) complex, which is essential for protein synthesis. It plays a role in the initiation phase of translation and is important for overall protein production in cells. Alterations in EIF3M can impact cellular growth and proliferation....

EIF3M

MTNR1B (Melatonin Receptor 1B): MTNR1B encodes one of the receptors for melatonin, a hormone that regulates sleep and circadian rhythms. This gene plays a crucial role in maintaining the body's internal clock and is also implicated in glucose homeostasis. Variations in MTNR1B have been linked to an increased risk of type 2 diabetes and disrupted sleep patterns....



MTNR1B

BANK1, also known as B-cell scaffold protein with ankyrin repeats 1, is a protein predominantly expressed in B lymphocytes, a type of white blood cell crucial for adaptive immunity. BANK1 plays a significant role in modulating B-cell receptor (BCR) signaling, a pivotal process in the activation and differentiation of B cells. One of the primary functions of BANK1 is its involvement in BCR signaling pathway regulation. BANK1 acts as a scaffold protein, facilitating the assembly of signaling complexes upon BCR engagement. It interacts with various signaling molecules, including kinases, phosphatases, and adapter proteins, thereby modulating downstream signaling cascades. Through its scaffolding...




BANK1

SRR (Serine Racemase): SRR catalyzes the production of D-serine, a co-agonist of the NMDA receptor, which is critical for neurotransmission and synaptic plasticity in the brain. Alterations in SRR activity can affect glutamatergic signaling and have been linked to neurodegenerative disorders like Alzheimer's disease and psychiatric conditions such as schizophrenia, reflecting its key role in brain function and mental health....

BMP2 (Bone Morphogenetic Protein 2): BMP2 is a member of the TGF-beta superfamily, known for its critical roles in bone and cartilage development. It induces bone formation and regeneration, making it a key factor in skeletal homeostasis. Dysregulation of BMP2 signaling has been associated with various skeletal disorders and has implications in cardiovascular disease, underscoring its potential in regenerative medicine and tissue engineering....



BMP2

ALPK1 (Alpha Kinase 1): ALPK1 is a kinase involved in the regulation of various cellular processes, including inflammation and immune responses. It has been linked to the pathogenesis of chronic inflammatory diseases and is a potential target for therapeutic intervention in such conditions....

ALPK1

IGLV4-60 (Immunoglobulin Lambda Variable 4-60): IGLV4-60 is part of the immunoglobulin gene family and is involved in the adaptive immune response. It encodes a component of the variable region of lambda light chains in antibodies, playing a role in antigen recognition. The diversity of immunoglobulin genes like IGLV4-60 is crucial for the ability of the immune system to respond to a wide array of pathogens....

IGLV4-60

SOD3 (Superoxide Dismutase 3): SOD3 emerges as a defender against oxidative stress, with a specific role in dismutating superoxide radicals. This enzyme operates as a guardian of tissues and cells, protecting them from the damaging effects of reactive oxygen species. SOD3's contributions extend to cardiovascular health and tissue protection, positioning it as a key player in our body's defense mechanisms....



SOD3

FLT3 (Fms-Like Tyrosine Kinase 3): FLT3 is a receptor tyrosine kinase involved in the proliferation and differentiation of hematopoietic stem cells into mature blood cells. Mutations in FLT3, particularly activating mutations, are commonly found in acute myeloid leukemia (AML) and are associated with poor prognosis. Targeting FLT3 through inhibitors is a therapeutic strategy in treating AML and other hematological malignancies with FLT3 mutations....

FLT3

RMI2 (RecQ Mediated Genome Instability 2): RMI2 is part of a protein complex involved in maintaining genomic stability, particularly in the repair of DNA double-strand breaks and in the resolution of DNA recombination structures. Its function is crucial in preventing genomic instability, a key factor in cancer development and progression....

RMI2

ECHDC3, also known as Enoyl-CoA Hydratase Domain-Containing Protein 3, is an enzyme involved in fatty acid metabolism. Specifically, ECHDC3 contains a domain characteristic of enoyl-CoA hydratases, which catalyze the hydration of enoyl-CoA intermediates in the β-oxidation pathway of fatty acid degradation. One of the primary functions of ECHDC3 is its role in fatty acid β-oxidation, a metabolic process that occurs in the mitochondria and peroxisomes and is essential for energy production. During β-oxidation, fatty acids are broken down into acetyl-CoA molecules, which can enter the citric acid cycle to generate ATP, the primary energy currency of the cell. ECHDC3 participates in...

ECHDC3

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

CD101 (CD101 Molecule): CD101 is a cell surface glycoprotein involved in immune regulation. It plays a role in the activation and suppression of immune cells, particularly in the context of autoimmune diseases and immune responses. Its expression on T cells and other immune cells is important for modulating the immune system's activity....



CD101

CBLB (C-Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase): CBLB encodes an E3 ubiquitin ligase protein that regulates intracellular signaling pathways by targeting proteins for degradation. It plays a role in immune responses and is involved in negatively regulating T cell activation. Dysregulation of CBLB can lead to autoimmune diseases and immune-related disorders....



CBLB

PPM1F (Protein Phosphatase, Mg2+/Mn2+ Dependent 1F): PPM1F encodes a protein phosphatase that is involved in the dephosphorylation of target proteins. Protein phosphorylation and dephosphorylation are critical for the regulation of cellular processes such as signal transduction and cell cycle progression. PPM1F likely contributes to the fine-tuning of these processes....

PPM1F

THBS3 (Thrombospondin 3): THBS3 encodes a member of the thrombospondin family, involved in cell-to-cell and cell-to-matrix communication. It plays a role in tissue remodeling and wound healing, and is also important in angiogenesis, the process of new blood vessel formation. Dysregulation of THBS3 has been linked to various pathological conditions, including fibrosis and cancer....



THBS3

COPB2 (Coatomer Protein Complex Subunit Beta 2): COPB2 is part of the coatomer protein complex involved in vesicle formation and transport within cells. It plays a crucial role in the transport of proteins between the endoplasmic reticulum and the Golgi apparatus....



COPB2

GNPDA2 (Glucosamine-6-Phosphate Deaminase 2): GNPDA2 is involved in glucose metabolism and is associated with glycemic control. It plays a role in the conversion of glucosamine-6-phosphate to fructose-6-phosphate, a step in glucose utilization. Variations in GNPDA2 have been linked to type 2 diabetes risk and glucose homeostasis....

GNPDA2

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

TTC39C (Tetratricopeptide Repeat Domain 39C): TTC39C is part of the tetratricopeptide repeat protein family, which is involved in various cellular processes, including the regulation of cholesterol metabolism and transport. Its role is less well characterized but is being studied for potential implications in lipid homeostasis and associated metabolic disorders, such as obesity and cardiovascular disease....




TTC39C

SRD5A2, or 5-alpha-reductase 2, is an enzyme that catalyzes the conversion of testosterone into dihydrotestosterone (DHT), a more potent androgen. It is primarily expressed in androgen-sensitive tissues, including the prostate gland, hair follicles, and external genitalia. One of the primary functions of SRD5A2 is its role in androgen metabolism and the regulation of androgen signaling. Testosterone, synthesized primarily in the testes, adrenal glands, and ovaries, serves as the precursor for DHT. SRD5A2 converts testosterone into DHT by reducing the 4,5 double bond of the A ring, which increases the affinity of the androgen receptor (AR) for DHT. DHT binding to AR...



SRD5A2

SPINK6 (Serine Peptidase Inhibitor, Kazal Type 6): SPINK6 is involved in skin barrier function and has been implicated in skin diseases. It acts as an inhibitor of serine proteases, which are important for various physiological processes including inflammation and immune response....

SPINK6

INHBC (Inhibin Beta C Subunit): INHBC is a part of the activin-inhibin family, which regulates various functions including reproduction, cell growth, and differentiation. It is involved in the regulation of the follicle-stimulating hormone (FSH). Dysregulation of INHBC can have implications in reproductive health and certain cancers....

INHBC

DPPA2 (Developmental Pluripotency-Associated 2): DPPA2 is a gene associated with pluripotency and is involved in the regulation of embryonic stem cell identity. It plays a role in maintaining the undifferentiated state of embryonic stem cells and is part of the molecular machinery that controls pluripotency-associated gene expression....

DPPA2

CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C): CDKN1C encodes a cyclin-dependent kinase inhibitor, p57^Kip2, which regulates the cell cycle by inhibiting the activity of cyclin-CDK complexes. Mutations in CDKN1C can lead to overgrowth disorders such as Beckwith-Wiedemann syndrome and Silver-Russell syndrome. It is a critical gene in the regulation of cell growth and development....



CDKN1C

HSPA13 (Heat Shock Protein Family A (Hsp70) Member 13): HSPA13 is a member of the heat shock protein family, known for their role in protecting cells from stress conditions by facilitating protein folding, repair, and degradation. Its specific functions are less understood, but it is believed to be involved in cellular stress response and may play a role in cancer and neurodegenerative diseases, where protein misfolding and cellular stress mechanisms are disrupted....

HSPA13

H2BC1 refers to Histone H2B type 1-C/E/F/G/I, a member of the histone H2B family, which is essential for the packaging of DNA into chromatin within the nucleus of eukaryotic cells. Histones, including H2B proteins, play a crucial role in regulating gene expression by modulating the accessibility of DNA to transcription factors and the transcriptional machinery. H2BC1 is specifically involved in forming the core structure of nucleosomes, the basic repeating units of chromatin. Within nucleosomes, H2B proteins, along with histones H2A, H3, and H4, form an octameric complex around which DNA is wrapped. This compacted structure helps to organize and condense the...

H2BC1

TFAP2B (Transcription Factor AP-2 Beta): TFAP2B plays a crucial role in embryonic development and differentiation. It is a transcription factor involved in the regulation of gene expression. Mutations in this gene can lead to developmental disorders and have been associated with obesity and diabetes....



TFAP2B

FRA10AC1 (Fragile Site, Folic Acid Type, Rare, Fra(10)(q23.3) Or FRA10A Candidate 1): FRA10AC1 is associated with a rare fragile site on chromosome 10, which can exhibit increased susceptibility to breakage under certain conditions. Fragile sites are areas in the genome that can lead to chromosomal instability and have been linked to various genetic disorders and cancers. The specific functions of FRA10AC1 are not well-characterized, but studies aim to understand its role in genomic stability and its potential association with developmental disorders and disease susceptibility....

FRA10AC1

NVL (Nuclear VCP-Like): NVL is a member of the AAA-ATPase family and is involved in various cellular processes, including ribosome biogenesis and the response to cellular stress. It has a role in maintaining cellular homeostasis and proper function of the nucleolus....



IFNLR1 (Interferon Lambda Receptor 1): IFNLR1 is the receptor for interferon lambda, a type of interferon involved in the immune response to viral infections. It plays a role in antiviral defense, particularly in the respiratory and gastrointestinal tracts. IFNLR1 signaling is important for the control of viral infections while minimizing tissue damage due to inflammation....

IFNLR1

TYR (Tyrosinase): TYR is an enzyme crucial in the melanin biosynthesis pathway, responsible for the initial steps of converting tyrosine into melanin pigments. Melanin is essential for coloration in the skin, hair, and eyes, and plays a protective role against UV radiation. Mutations in TYR are associated with albinism, a condition characterized by a deficiency or absence of melanin, leading to visual problems and increased skin cancer risk. TYR's function in pigmentation underscores its importance in protecting against UV-induced damage and in normal visual system development. ...




NRBF2, also known as Nuclear Receptor Binding Factor 2, is a protein involved in autophagy, a cellular process responsible for degrading and recycling damaged or unnecessary cellular components. NRBF2 plays a crucial role in the regulation of autophagy by facilitating the formation of autophagosomes, double-membraned vesicles that engulf and sequester cellular cargo for degradation. One of the primary functions of NRBF2 is its interaction with the autophagy-initiating kinase complex, ULK1 (Unc-51 Like Autophagy Activating Kinase 1) complex. NRBF2 binds to the ULK1 complex, which consists of ULK1, ATG13, FIP200, and ATG101, and promotes its stability and activity. This interaction is essential...



NRBF2

CHRM3 (Cholinergic Receptor Muscarinic 3): CHRM3 is a receptor for acetylcholine, involved in various physiological functions, including smooth muscle contraction and glandular secretion. Dysregulation of CHRM3 is implicated in disorders like asthma and overactive bladder syndrome....



CHRM3

GCSAML (Germinal Center-Associated Signaling And Motility-Like): GCSAML is a less characterized gene but is believed to be involved in immune cell signaling and motility, particularly in germinal center B cells. Its role may be significant in the development of immune responses and the regulation of B cell activity....

GCSAML

PEAK1 (Pseudopodium-Enriched Atypical Kinase 1): PEAK1 is a gene involved in cell signaling and cytoskeletal dynamics. It plays a significant role in cell migration, adhesion, and invasion. Dysregulation of PEAK1 has been associated with cancer progression and metastasis, as it promotes tumor cell mobility and invasion into surrounding tissues. ...

PEAK1

TNXB (Tenascin-XB): TNXB, a member of the tenascin family of extracellular matrix proteins, plays a pivotal role in tissue development, organization, and homeostasis. It is primarily expressed in connective tissues, where it contributes to the structural integrity and elasticity of the extracellular matrix (ECM). TNXB is involved in cell adhesion, migration, and proliferation, influencing processes such as wound healing, tissue remodeling, and organogenesis. Its expression is particularly prominent in skin, tendons, and blood vessels, where it modulates the mechanical properties and resilience of these tissues. Mutations or deficiencies in TNXB have been associated with Ehlers-Danlos syndrome (EDS), a group of...




TNXB

VCAN (Versican): VCAN is a gene that codes for versican, a large proteoglycan found in the extracellular matrix of tissues. Versican is involved in cell adhesion, migration, and tissue development. It plays a role in maintaining tissue structure and may contribute to processes like wound healing and embryonic development....

VCAN

ZNF804A (Zinc Finger Protein 804A): ZNF804A is a zinc finger protein implicated in psychiatric disorders, particularly schizophrenia and bipolar disorder. It is believed to play a role in brain development and synaptic plasticity. Variations in ZNF804A have been associated with altered brain structure and function, highlighting its importance in neuropsychiatric research and the potential for targeted therapies....




ZNF804A

SHC1 (SHC Adaptor Protein 1): SHC1 is an adaptor protein involved in the signal transduction pathways that regulate cell growth, differentiation, and survival. By mediating the activation of the Ras/MAPK signaling pathway, SHC1 influences cellular responses to growth factors and cytokines. Dysregulation of SHC1 has been implicated in the development of various cancers, as well as in cardiovascular diseases, highlighting its critical role in cellular signaling and disease pathogenesis....



SHC1

AKT3, also known as Protein Kinase B (PKB) gamma, is a serine/threonine protein kinase that plays a crucial role in various cellular processes, including cell survival, proliferation, metabolism, and growth. It is a member of the AKT family of kinases, which also includes AKT1 and AKT2. One of the primary functions of AKT3 is its role in the regulation of cell survival and apoptosis. AKT3 is activated in response to growth factors, cytokines, and other extracellular signals that stimulate cell growth and survival. Upon activation, AKT3 phosphorylates downstream targets involved in apoptotic regulation, such as BAD and caspase-9, leading to their...

AKT3

TPO (Thyroid Peroxidase): TPO encodes the thyroid peroxidase enzyme, which is crucial for thyroid hormone synthesis. It catalyzes the iodination and coupling of thyroid hormone precursors, ultimately leading to the production of thyroid hormones (T3 and T4). Dysregulation of TPO can result in thyroid disorders....




ZGRF1, also known as Zinc finger GRF-type containing 1, is a protein characterized by the presence of zinc finger domains, which are common protein motifs involved in nucleic acid binding and protein-protein interactions. Positioned within the nucleus of cells, ZGRF1 likely functions as a transcription factor or a regulator of gene expression. While specific details regarding the function of ZGRF1 are still being elucidated, proteins containing zinc finger domains often play crucial roles in diverse cellular processes, including gene transcription, RNA processing, and chromatin remodeling. Zinc finger proteins can act as transcriptional activators or repressors by binding to specific DNA sequences...

ZGRF1

CDK6 (Cyclin-Dependent Kinase 6): CDK6, in complex with D-type cyclins, plays a pivotal role in regulating cell cycle progression, particularly the transition from the G1 to S phase. It is essential for cellular proliferation and differentiation. Dysregulation of CDK6 activity has been linked to various cancers, making it a target for cancer therapy, especially in malignancies characterized by CDK6 overexpression or dysregulation....



CDK6

FAM216B (Family With Sequence Similarity 216 Member B): FAM216B is a lesser-known gene with limited information available. Genes in the FAM216 family are believed to be involved in diverse cellular processes, but the specific function and role of FAM216B in human health and disease are not well characterized....

FAM216B

SIDT2 (SID1 Transmembrane Family Member 2): SIDT2 is involved in the cellular uptake of RNA molecules, playing a role in RNA interference (RNAi) mechanisms. It's important in the study of gene regulation and has potential implications in the development of RNA-based therapeutics. The function of SIDT2 in RNA transport is crucial for understanding how cells regulate gene expression and respond to external RNA molecules....



SIDT2

GPM6A (Glycoprotein M6A): GPM6A encodes a glycoprotein primarily expressed in the nervous system, playing a critical role in neurite outgrowth and the formation of neuronal networks. It's involved in the development and maintenance of the myelin sheath, crucial for efficient nerve signal transmission. GPM6A has been implicated in neurological disorders, including schizophrenia and bipolar disorder, due to its role in neuronal plasticity and myelination. Research suggests that alterations in GPM6A expression or function can impact synaptic connectivity and brain function, potentially contributing to the pathophysiology of these neuropsychiatric conditions....

GPM6A

USP25 (Ubiquitin Specific Peptidase 25): USP25 encodes an enzyme that is part of the ubiquitin-proteasome pathway, responsible for removing ubiquitin from proteins, thereby regulating their degradation. It is involved in various cellular processes, including signal transduction and stress response. Alterations in USP25 are linked to immune system dysregulation and potentially to cancer....




USP25

Gluten Sensitivity (Non-Celiac): Non-celiac gluten sensitivity (NCGS) is a condition where individuals experience symptoms similar to celiac disease upon consuming gluten, but without the autoimmune intestinal damage seen in celiac disease. The exact cause is unknown, but it's believed to involve an innate immune response to gluten in genetically predisposed individuals....

Gluten Sensitivity

TNP1, or Transition Protein 1, is a protein primarily found in the nuclei of developing spermatids, the immature male germ cells, during spermiogenesis—the final stage of spermatogenesis where round spermatids differentiate into mature spermatozoa. TNP1 is a member of a family of small, highly basic proteins known as transition proteins, which are involved in the chromatin remodeling process that occurs during spermiogenesis. One of the primary functions of TNP1 is its role in the replacement of histones with protamines, specialized proteins that condense and package DNA into a highly compacted form within the sperm nucleus. During spermiogenesis, TNP1 binds to histones...

TNP1

FUT5 (Fucosyltransferase 5): FUT5 is another enzyme involved in fucose metabolism, adding fucose to glycans, which are essential for cell-cell interaction and communication. Alterations in FUT5 activity can influence immune responses and have been studied in relation to cancer....

FUT5

STMN4 (Stathmin-Like 4): STMN4 is involved in microtubule dynamics and regulation. It plays a role in the organization of the cytoskeleton and may impact cellular processes such as cell division and intracellular transport....



STMN4

ADAMTS16 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 16): ADAMTS16 is an enzyme involved in the cleavage of extracellular matrix components. It plays a role in tissue remodeling and development. Dysregulation of ADAMTS16 has been associated with various conditions, including kidney and cardiovascular diseases, and it may have implications in fertility....

ADAMTS16

PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta): PPARGC1B is a coactivator of the PPARγ receptor, playing a significant role in energy metabolism. It is involved in the regulation of genes associated with energy production, such as those involved in mitochondrial biogenesis and fatty acid metabolism. This gene is pivotal in metabolic processes and has been linked to conditions like obesity and diabetes....

PPARGC1B

AOC1 (Amine Oxidase, Copper Containing 1): AOC1, also known as diamine oxidase, is involved in the metabolism of histamine and polyamines. It plays a role in the regulation of histamine levels and is important in allergic responses, gastrointestinal function, and immune regulation....




AOC1

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

PRR5L (Proline Rich 5 Like): PRR5L is associated with the mechanistic target of rapamycin (mTOR) complex, which regulates cell growth, proliferation, and survival in response to nutrient availability and other environmental cues. PRR5L influences mTOR complex 2 (mTORC2) activity, impacting processes like insulin signaling, cytoskeletal organization, and cell survival. Dysregulation of mTOR signaling pathways, including those involving PRR5L, is implicated in various diseases, including cancer and metabolic disorders....




PRR5L

LGSN (Lengsin): LGSN is a lens-specific protein involved in the maintenance and regeneration of the lens in the eye. It plays a role in maintaining the transparency and refractive properties of the lens. Mutations in LGSN can lead to cataract formation, making it a significant gene in the study of eye diseases and lens development....

LGSN

FOXA2 (Forkhead Box A2): FOXA2 is a transcription factor that plays a pivotal role in the development of various tissues, including the liver, pancreas, and lung. This transcription factor is involved in the regulation of genes related to metabolism, development, and differentiation. In the pancreas, FOXA2 is crucial for the development and function of insulin-producing beta cells. It plays a key role in maintaining glucose homeostasis by regulating the expression of genes involved in insulin secretion and glucose metabolism....

FOXA2

CETP (Cholesteryl Ester Transfer Protein): CETP plays a critical role in lipid metabolism, particularly in the transfer of cholesteryl esters and triglycerides between lipoproteins. Its function impacts the composition of HDL (high-density lipoprotein) and LDL (low-density lipoprotein), making it significant in the study of cardiovascular diseases. CETP inhibitors have been explored as potential treatments for atherosclerosis due to their ability to raise HDL cholesterol levels....



CETP

BLMH (Bleomycin Hydrolase): BLMH is an enzyme crucial for metabolizing and detoxifying the chemotherapeutic drug bleomycin. Bleomycin is effective in treating cancer by causing DNA damage in cancer cells, but it can also lead to lung toxicity as a side effect. BLMH plays a pivotal role in breaking down bleomycin into harmless compounds, reducing the risk of lung toxicity. Understanding BLMH's function is vital for optimizing cancer treatment and managing its side effects, particularly in patients receiving bleomycin-based therapies. Researchers are actively exploring strategies to enhance the safety and effectiveness of cancer treatments involving bleomycin....



BLMH

PKNOX1 (PBX/Knotted 1 Homeobox 1): PKNOX1 is a transcription factor involved in developmental processes and cellular differentiation. It regulates gene expression during embryogenesis and may be involved in hematopoietic cell development. Dysregulation of PKNOX1 can have implications in developmental abnormalities....




PKNOX1

CANT1 (Calcium Activated Nucleotidase 1): CANT1 is involved in the hydrolysis of UDP, a nucleotide involved in glycosaminoglycan synthesis. Mutations in CANT1 are associated with skeletal disorders like Desbuquois dysplasia, highlighting its importance in bone development and cartilage formation....



CANT1

NOTCH1 (Notch Receptor 1): NOTCH1 is a critical component of the Notch signaling pathway, which influences cell fate determination, stem cell maintenance, and differentiation during embryonic and adult tissue development. Dysregulation of NOTCH1 signaling contributes to a variety of disorders, notably including several forms of cancer, such as T-cell acute lymphoblastic leukemia, and developmental abnormalities. The pathway's broad impact on cell proliferation and differentiation makes it a significant focus in developmental biology and oncology research....



NOTCH1

HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2): HIVEP2 is a gene involved in transcriptional regulation. It plays a role in binding to DNA and modulating gene expression. HIVEP2 may be a critical factor in regulating the activity of specific genes, with potential implications for developmental processes and immune responses....

HIVEP2

IREB2 (Iron Responsive Element Binding Protein 2): IREB2 plays a key role in iron metabolism by regulating the expression of genes involved in iron storage and transport. It is crucial in maintaining iron homeostasis in the body, binding to iron-responsive elements (IREs) in the mRNA of these genes to modulate their stability and translation. Imbalances in iron levels, whether due to deficiency or overload, can lead to various health issues, including anemia or iron overload disorders like hemochromatosis. The study of IREB2 is particularly significant in understanding iron-related metabolic pathways and their implications in conditions such as neurodegenerative diseases, where...

IREB2

ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4): ERBB4, a member of the epidermal growth factor receptor (EGFR) family, serves as a crucial regulator in various cellular processes. This transmembrane receptor tyrosine kinase is intricately involved in signaling pathways governing cell proliferation, differentiation, and survival. Its role extends beyond cellular processes to influence organ development, synaptic plasticity, and cardiac function, among others. ERBB4's activation triggers downstream cascades that modulate gene expression and cellular behavior, contributing significantly to tissue homeostasis and development. Moreover, its dysregulation has been implicated in diverse pathologies, including cancer progression, neurological disorders, and cardiac abnormalities. The multifaceted functions of ERBB4...

ERBB4

CENPW (Centromere Protein W): CENPW is involved in chromosome segregation during cell division, particularly in the formation and function of the centromere. It's essential for accurate cell division, and dysfunction can lead to chromosomal instability, which is a key feature in many cancers....



CENPW

SLC45A2 (Solute Carrier Family 45 Member 2): SLC45A2, also known as MATP (Membrane-Associated Transporter Protein), is involved in melanin synthesis as a transporter of tyrosine, a precursor in the melanin biosynthesis pathway. Variants in SLC45A2 are associated with pigmentation diversity in humans, affecting skin, hair, and eye color. Mutations in this gene can lead to oculocutaneous albinism type 4, characterized by reduced pigmentation and visual impairments. SLC45A2's role in pigmentation not only contributes to phenotypic diversity but also has implications for UV radiation protection and vitamin D synthesis....



SLC45A2

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

RESF1 (Respiratory Factor 1): RESF1 is involved in mitochondrial function and respiratory chain activity. It plays a crucial role in energy production within cells and is important for the maintenance of mitochondrial integrity and function....




RESF1

FARP2 (FERM, ARH/RhoGEF, And Pleckstrin Domain Protein 2): FARP2 is a signaling protein that influences neuronal development and synaptic plasticity by regulating dendritic spine formation and actin cytoskeleton remodeling. It acts as a guanine nucleotide exchange factor for small GTPases, mediating cell signaling pathways that affect neuronal connectivity and function. Alterations in FARP2 expression or function are associated with neurological disorders, highlighting its significance in brain development and synaptic regulation....

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