Consultations

Consultations Website

GetTested Laboratory Test

GetTested Rapid Test

Supplements

Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.

<p>Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.</p>

DNA Gut Health Test

FGD4 (FYVE, RhoGEF, and PH Domain Containing 4): FGD4 encodes a guanine nucleotide exchange factor that specifically activates Cdc42, a member of the Rho family of GTPases. This activation plays a key role in regulating cytoskeletal organization, cell shape, and migration. Mutations in FGD4 are associated with Charcot-Marie-Tooth disease, a disorder affecting peripheral nerves, highlighting its importance in nerve development and function....

FGD4

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

FBLN5 (Fibulin 5): FBLN5 is involved in elastic fiber assembly and connective tissue organization, playing a crucial role in maintaining the integrity and elasticity of extracellular matrix. It is essential for skin, vascular, and lung function. Dysregulation of FBLN5 is associated with tissue stiffness, age-related macular degeneration, and organ fibrosis, highlighting its importance in tissue remodeling and disease....

FBLN5

OSR1 (Odd-Skipped Related 1): OSR1 is a transcription factor gene playing a key role in embryonic development, especially in the formation of the heart and urogenital system. Mutations or dysregulation of OSR1 can lead to developmental abnormalities in these systems. Research on OSR1 is significant for understanding congenital defects and developmental biology....



OSR1

CALCRL (Calcitonin Receptor-Like): CALCRL, also known as the calcitonin receptor-like receptor, is an integral component of the calcitonin gene-related peptide (CGRP) receptor complex. It plays a pivotal role in cardiovascular physiology and the regulation of vasodilation, thereby contributing to blood pressure homeostasis....



CALCRL

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

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

CNDP2 (Carnosine Dipeptidase 2): CNDP2, closely related to CNDP1, is another enzyme that participates in the metabolism of carnosine and anserine. Its function and significance are less understood than CNDP1, but it is believed to play a role in muscle and brain health. Research into CNDP2 may uncover new aspects of metabolic health and disease....



CNDP2

H2BC5 (Histone Cluster 2, H2bc5): H2BC5 is a member of the histone H2B family, which comprises proteins that play essential roles in packaging and organizing DNA within the nucleus of eukaryotic cells. Histone proteins, including H2BC5, form complexes with DNA to create chromatin, the structural unit of chromosomes. Within chromatin, histones undergo various post-translational modifications that regulate gene expression, DNA replication, and repair. H2BC5 is specifically involved in the formation of nucleosomes, which are the basic repeating units of chromatin structure. Nucleosomes consist of DNA wrapped around a core of histone proteins, including H2BC5. These nucleosomes can undergo dynamic changes in...

H2BC5

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

SPATA6 (Spermatogenesis Associated 6): SPATA6 is important in spermatogenesis, the process of sperm cell development. It is involved in the formation and function of spermatozoa. Mutations in SPATA6 can lead to male infertility, making it a significant gene in the study of reproductive health....

SPATA6

ZBED3 (Zinc Finger BED-Type Containing 3): ZBED3 is a gene that encodes a zinc finger protein, a type of protein domain involved in gene regulation. While specific functions of ZBED3 are still being elucidated, zinc finger proteins are known to bind to DNA and influence gene expression. ZBED3 may play a role in modulating gene activity, contributing to various cellular processes and pathways....

ZBED3

ZNF799 (Zinc Finger Protein 799): ZNF799 is part of the zinc finger protein family, known for their roles in DNA binding and transcriptional regulation. Although the specific functions of ZNF799 are not well established, its zinc finger motifs suggest it may be involved in the regulation of gene expression, possibly impacting various cellular processes and potentially playing a role in developmental or disease mechanisms....




ZNF799

MYOM1 (Myomesin 1): MYOM1 is a structural protein found in the M-band of sarcomeres in muscle cells. It plays a crucial role in muscle contraction and elasticity. Mutations in MYOM1 can affect muscle function and have been studied in the context of muscle diseases and cardiomyopathies....

MYOM1

C10ORF53 (Chromosome 10 Open Reading Frame 53): C10ORF53 is a gene of unknown function, identified based on its location on chromosome 10. Genes like C10ORF53 represent potential areas of interest for genetic research to uncover new biological pathways and disease associations. As research progresses, understanding the role of C10ORF53 could provide insights into cellular processes or conditions linked to this genomic region....



C10ORF53

SERPINB1 (Serpin Family B Member 1): SERPINB1, a member of the serpin (serine protease inhibitor) family, plays a crucial role in regulating proteolytic pathways involved in inflammation and immune responses. It primarily inhibits neutrophil elastase and cathepsin G, enzymes released by neutrophils during inflammation, preventing excessive tissue damage. SERPINB1's protective role in maintaining lung tissue integrity is highlighted in conditions like cystic fibrosis and chronic obstructive pulmonary disease (COPD), where its deficiency or dysregulation can lead to enhanced tissue degradation and disease progression. Its function in controlling protease activity underscores its importance in balancing the body's need to fight infection with...

SERPINB1

SLC26A8 (Solute Carrier Family 26 Member 8): SLC26A8 is a transporter protein, particularly important in testis for sperm motility and fertility. It is involved in anion transport and is essential for proper sperm function and male fertility....



SLC26A8

POLR1F (RNA Polymerase I Subunit F): POLR1F is an integral component of RNA polymerase I, responsible for the transcription of ribosomal RNA (rRNA), a critical component of ribosomes. Ribosomes are essential for protein synthesis in cells, and thus, POLR1F plays a vital role in cellular growth and function. Dysfunctions or mutations in POLR1F can lead to issues in ribosome biogenesis and function, potentially resulting in diseases associated with impaired protein synthesis. The study of POLR1F and its associated pathways is important for understanding various cellular processes and conditions related to ribosomal function and protein synthesis....

POLR1F

ANKH (Ankylosis Homolog): ANKH is associated with a genetic disorder called familial chondrocalcinosis, which leads to the deposition of calcium crystals in joints, resulting in painful arthritis. ANKH encodes a protein that is involved in the regulation of extracellular inorganic pyrophosphate levels, which can influence joint health and mineralization of cartilage and bone tissues....




ANKH

SGMS1 (Sphingomyelin Synthase 1): SGMS1 is involved in sphingolipid metabolism, which is crucial for cell membrane integrity and signaling. It plays a role in the conversion of ceramide to sphingomyelin, important in cell signaling and apoptosis. Dysregulation of SGMS1 has implications in metabolic and neurodegenerative diseases....



SGMS1

BTG1 (B-cell Translocation Gene 1): BTG1 is a gene with diverse cellular roles, primarily centered around cell cycle regulation and cellular differentiation. It operates as a tumor suppressor gene in certain contexts, exerting influence over cell growth and proliferation. Beyond its tumor-suppressive functions, BTG1 also participates in various cellular processes, making it a subject of interest in cancer research and developmental biology....



BTG1

HAPLN1 (Hyaluronan And Proteoglycan Link Protein 1): HAPLN1 is involved in the binding of hyaluronic acid and proteoglycans in the extracellular matrix. It plays a role in tissue integrity and is associated with cartilage and connective tissue function....

HAPLN1

WSB1 (WD Repeat And SOCS Box Containing 1): WSB1 is part of the SOCS (Suppressor of Cytokine Signaling) box family, which are involved in protein degradation pathways. It plays a role in the regulation of various signaling pathways and has been implicated in responses to hypoxia and in the regulation of thyroid hormone activation....

WSB1

TSHZ3 (Teashirt Zinc Finger Homeobox 3): TSHZ3 is a transcription factor involved in embryonic development and tissue differentiation. It plays a role in the development of various organs and tissues. Mutations in TSHZ3 can lead to developmental abnormalities....

TSHZ3

SLC25A34 (Solute Carrier Family 25 Member 34): SLC25A34 belongs to the solute carrier family, which is involved in the transport of various molecules across cellular membranes. The specific function of SLC25A34 is not well understood, but members of this family are crucial for metabolic processes and cellular homeostasis. Studying this gene could provide insights into metabolic disorders and cellular transport mechanisms....



SLC25A34

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

XKR9

GRM5 (Metabotropic Glutamate Receptor 5): GRM5 is a member of the metabotropic glutamate receptor family and plays a role in neuronal signaling. It is involved in the modulation of synaptic transmission and plasticity. Dysregulation of GRM5 has been implicated in neurological disorders such as schizophrenia....

GRM5

FAP (Fibroblast Activation Protein Alpha): FAP encodes an enzyme known as fibroblast activation protein alpha, which is expressed by activated fibroblasts in the tumor microenvironment. It plays a role in tissue remodeling and is a potential therapeutic target in cancer treatment....

SPG7 (Spastic Paraplegia 7, Paraplegin): SPG7 is a mitochondrial protein that plays a role in the maintenance and function of mitochondria, particularly in the ATPase assembly. Mutations in SPG7 are a common cause of hereditary spastic paraplegia, a neurodegenerative disorder characterized by progressive stiffness and weakness of the lower limbs, reflecting its importance in neural and mitochondrial function....

SPG7

ZCCHC14 (Zinc Finger, CCHC Domain Containing 14): ZCCHC14 is a gene that encodes a protein with zinc finger and CCHC domains, suggesting a role in nucleic acid binding and regulation. The specific function of ZCCHC14 is still being investigated, and further research is needed to fully understand its role in cellular processes...

ZCCHC14

CARD9 (Caspase Recruitment Domain Family Member 9): CARD9 is a gene involved in innate immune signaling. It encodes a protein that contains a caspase recruitment domain (CARD) and plays a role in immune responses to fungal pathogens. CARD9 is a key player in the activation of immune cells and the production of cytokines in response to fungal infections....



CARD9

TDRD15 (Tudor Domain Containing 15): TDRD15 is a protein that contains a Tudor domain, which is known to interact with methylated proteins and nucleic acids. The specific functions of TDRD15 and its role in cellular processes are areas of ongoing investigation....



TDRD15

G6PC2 (Glucose-6-Phosphatase Catalytic Subunit 2): G6PC2 is involved in glucose metabolism and catalyzes the hydrolysis of glucose-6-phosphate to glucose. It plays a pivotal role in glucose homeostasis by regulating blood glucose levels, making it a significant contributor to overall metabolic health....

G6PC2

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

GRM1 (Glutamate Receptor, Metabotropic 1): GRM1 is a receptor for glutamate, the primary excitatory neurotransmitter in the nervous system. It plays a crucial role in modulating synaptic plasticity, learning, and memory. GRM1 is involved in various neural pathways and has been implicated in neurological and psychiatric disorders, including epilepsy, schizophrenia, and neurodegenerative diseases. Its role in neurotransmission and brain function makes it a potential target for therapeutic interventions in these conditions....

GRM1

OR7A5 (Olfactory Receptor, Family 7, Subfamily A, Member 5): Similar to OR7A17, OR7A5 is also an olfactory receptor gene. These receptors are G protein-coupled receptors involved in the detection and discrimination of a wide range of odors, playing a crucial role in the sense of smell....



OR7A5

SPATS2L (Spermatogenesis Associated Serine Rich 2-Like): SPATS2L is a gene associated with spermatogenesis, the process of sperm cell development. It may play a role in male fertility, but further research is needed to fully understand its function and implications....



SPATS2L

TP53 (Tumor Protein P53): TP53 is one of the most well-known tumor suppressor genes. It encodes the p53 protein, which plays a central role in preventing the development of cancer. p53 regulates cell cycle arrest, DNA repair, and apoptosis in response to DNA damage. Mutations in TP53 are associated with a wide range of cancers, making it a critical gene in cancer research and therapy....

TP53

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

GAREM2

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

SPATA7 (Spermatogenesis Associated 7): SPATA7 is important in eye and reproductive system development. Mutations in SPATA7 are linked to Leber congenital amaurosis and retinitis pigmentosa, both of which are retinal degenerative diseases leading to vision loss....



SPATA7

SLC30A8 (Solute Carrier Family 30 Member 8): SLC30A8 is involved in zinc transport and insulin secretion from pancreatic beta cells. It plays a role in glucose homeostasis and is a potential target for the treatment of type 2 diabetes....



SLC30A8

FRY (FRY Microtubule Binding Protein): FRY is a large protein involved in cell structure organization, particularly in relation to microtubules and cell polarity. It has roles in cellular processes such as migration and division, with implications for development and cancer. Research is focused on understanding FRY's function in normal cellular processes and its potential involvement in tumorigenesis and metastasis..

SLC8A1 (Sodium/Calcium Exchanger 1): SLC8A1, commonly referred to as the sodium/calcium exchanger 1 (NCX1), is a critical membrane transport protein that plays a fundamental role in calcium homeostasis in cardiac and skeletal muscle cells, as well as in neurons. This exchanger helps regulate intracellular calcium levels by removing calcium from cells in exchange for sodium, a process vital for muscle relaxation and the prevention of calcium overload, which can lead to cellular toxicity. SLC8A1's activity is essential for maintaining the proper function of cardiac and smooth muscle contractions and is involved in signaling pathways that influence heart rate, neuronal excitability,...



SLC8A1

PDE2A (Phosphodiesterase 2A): PDE2A is an enzyme that regulates cyclic nucleotide signaling by hydrolyzing cyclic AMP (cAMP) and cyclic GMP (cGMP). It plays a role in cellular signal transduction and is involved in processes such as smooth muscle contraction and cardiac function. PDE2A inhibitors are being explored for their potential in treating heart diseases and other conditions....

PDE2A

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

SLCO1B1, also known as Solute Carrier Organic Anion Transporter Family Member 1B1, is a membrane-bound transporter protein primarily found in the liver. It plays a crucial role in the uptake of various endogenous and exogenous compounds, including bile acids, hormones, drugs, and toxins, from the bloodstream into hepatocytes (liver cells). One of the primary functions of SLCO1B1 is its involvement in the hepatic uptake of bile acids, a process essential for bile acid homeostasis and bile formation. By transporting bile acids across the sinusoidal membrane of hepatocytes, SLCO1B1 facilitates their clearance from the bloodstream and their subsequent incorporation into bile, which...



SLCO1B1

CRTC3 (CREB Regulated Transcription Coactivator 3): CRTC3 is a gene associated with transcriptional regulation. It encodes a coactivator protein that interacts with CREB (cAMP response element-binding protein) to modulate gene expression in response to various signaling pathways. CRTC3 is involved in processes related to cellular energy balance, metabolism, and glucose homeostasis....



CRTC3

NIPSNAP3A (Nipsnap Homolog 3A): NIPSNAP3A is part of a gene family that is implicated in intracellular trafficking and mitochondrial function. Its exact role is not fully understood, but it is thought to be involved in cellular metabolism and energy production. Studying NIPSNAP3A can provide insights into mitochondrial function and metabolic disorders....



NIPSNAP3A

SLITRK1 (SLIT and NTRK-Like Family Member 1): SLITRK1 is a gene that encodes a member of the SLITRK family, which is involved in neuronal development and synaptic function. SLITRK1 may contribute to processes like neurite outgrowth and the formation and maintenance of neuronal connections....

SLITRK1

CRIPT (Cysteine-Rich PDZ-Binding Protein): CRIPT is involved in synaptic assembly and function. It encodes a protein that binds to a specific PDZ domain, playing a role in the localization of certain proteins within cells, particularly in the nervous system. Its function is significant for synaptic stability and neuronal signaling....



CRIPT

SATB1 (SATB Homeobox 1): SATB1 is a DNA-binding protein that regulates chromatin architecture and gene expression, particularly in T lymphocytes. It organizes the nuclear architecture by anchoring chromatin loops and regulates the expression of a large number of genes involved in T cell development and function. Altered SATB1 expression is associated with various cancers and is involved in the regulation of immune responses....

SATB1

ICA1L (Islet Cell Autoantigen 1-Like): ICA1L is related to proteins involved in neuroendocrine secretion and is thought to play a role in the regulation of insulin secretion in pancreatic beta cells. Its study is significant for understanding autoimmune diabetes, as it may be involved in the autoimmunity process affecting insulin-producing cells. Research into ICA1L could provide insights into the pathogenesis of diabetes and potential targets for therapeutic intervention....

ICA1L

SLK, also known as STE20-like kinase, is a key enzyme belonging to the serine/threonine kinase family. Positioned primarily within the cytoplasm of cells, SLK plays a pivotal role in regulating various cellular processes, including cell proliferation, survival, migration, and cytoskeletal organization. One of the distinguishing features of SLK is its involvement in signaling pathways that govern cell morphology and motility. Through its kinase activity, SLK phosphorylates target proteins involved in cytoskeletal dynamics, such as focal adhesion kinase (FAK), paxillin, and cortactin, thereby modulating the assembly and turnover of focal adhesions and actin stress fibers. Moreover, SLK has been implicated in the regulation...



FUT2 is an enzyme crucially involved in the synthesis of histo-blood group antigens and secretor status determination. Specifically, FUT2 catalyzes the transfer of fucose residues onto acceptor molecules, a process essential for the production of various glycoproteins and glycolipids found in bodily fluids and on the surface of epithelial cells. One of the most well-known substrates of FUT2 is the H antigen, which serves as a precursor for the ABO blood group antigens. The presence or absence of functional FUT2 determines an individual's secretor status, impacting the expression of certain blood group antigens in bodily fluids such as saliva and...

FUT2

VPS37B, a member of the vacuolar protein sorting (VPS) family, is a crucial component of the endosomal sorting complex required for transport (ESCRT) machinery. Located predominantly within the cytoplasm of cells, VPS37B plays a pivotal role in regulating intracellular membrane trafficking and protein sorting processes. One of the key functions of VPS37B is its involvement in the formation and function of multivesicular bodies (MVBs), specialized endosomal compartments responsible for sorting ubiquitinated membrane proteins destined for degradation in lysosomes. Within the ESCRT machinery, VPS37B interacts with other ESCRT components to facilitate the sequestration of cargo into intraluminal vesicles within MVBs, a process...

VPS37B

VMP1 (Vacuole Membrane Protein 1): VMP1 is involved in autophagy, a critical cellular process for degrading and recycling cellular components. It's particularly important for the formation of autophagosomes, structures that encapsulate cellular material for degradation. Dysregulation of VMP1 can impact cellular homeostasis and is implicated in various diseases, including pancreatitis and some forms of cancer....

VMP1

BSN (Bassoon Presynaptic Cytomatrix Protein): BSN is crucial for the proper assembly of active zones at synaptic terminals, facilitating neurotransmitter release. This protein's role in the structural organization of synapses is vital for synaptic transmission and plasticity, impacting learning and memory. Alterations in BSN function or expression can influence neurological function and have been associated with various neuropsychiatric disorders....



SMIM21 (Small Integral Membrane Protein 21): SMIM21 is a relatively less characterized protein, and its specific role in cellular processes is not well established. As a membrane protein, it might be involved in cellular signaling or transport processes, but further research is needed to elucidate its function and significance in human health and disease....



SMIM21

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha): FCER1A is crucial in allergic reactions, binding to immunoglobulin E (IgE) and activating mast cells and basophils. This activation releases histamine and other mediators of inflammation, leading to allergic symptoms. FCER1A's role in allergies and asthma makes it a focal point for developing treatments that mitigate allergic responses....

FCER1A

GRIK2 (Glutamate Ionotropic Receptor Kainate Type Subunit 2): GRIK2 is a critical subunit of the kainate receptors, which are glutamate-gated ion channels involved in excitatory neurotransmission in the central nervous system. These receptors play a pivotal role in synaptic transmission and plasticity, influencing learning, memory, and neural development. GRIK2's function is crucial for modulating neuronal excitability and has been implicated in various neurological conditions, including epilepsy, schizophrenia, and neurodegenerative diseases. Its involvement in the fine-tuning of synaptic activity makes GRIK2 a potential target for therapeutic interventions aimed at disorders characterized by aberrant glutamatergic signaling. Understanding the regulatory mechanisms of GRIK2...

GRIK2

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

AGMO

SPATA5 (Spermatogenesis-Associated 5): SPATA5 is a gene associated with spermatogenesis, the process of sperm cell development. It is crucial for male fertility as it plays a role in sperm formation. Mutations in SPATA5 can lead to fertility issues and are linked to male infertility....

SPATA5

USP47 (Ubiquitin Specific Peptidase 47): USP47 is an enzyme that specifically removes ubiquitin from ubiquitinated proteins, thereby regulating their degradation. It plays a crucial role in DNA repair, cell cycle regulation, and signal transduction by maintaining protein stability. Dysregulation of USP47 has been implicated in the development of various cancers and other diseases, where it affects processes such as cell proliferation and apoptosis. Understanding USP47's function is essential for exploring new therapeutic strategies for cancer and other diseases associated with protein degradation pathways....

USP47

SLC26A5 (Solute Carrier Family 26 Member 5, also known as Prestin): SLC26A5, or Prestin, is a motor protein in the outer hair cells of the cochlea, essential for sound amplification and hearing. It acts as a voltage-sensitive motor protein, contributing to the exquisite sensitivity and frequency selectivity of the cochlea. Mutations or dysregulation of SLC26A5 can affect hearing function, making it a significant focus for understanding the molecular basis of hearing and for developing treatments for hearing loss....



SLC26A5

GPR26 (G Protein-Coupled Receptor 26): GPR26 is an orphan receptor whose specific ligand and physiological role are not well-characterized. However, it is thought to be involved in central nervous system function, potentially playing a role in regulating mood and behavior. Studies suggest that GPR26 may have implications for neurological conditions and psychiatric disorders, making it a target of interest for drug discovery and neuroscience research....

GPR26

VAV3 (Vav Guanine Nucleotide Exchange Factor 3): VAV3 encodes a guanine nucleotide exchange factor that is involved in intracellular signaling pathways related to cell proliferation and cytoskeletal rearrangement. It plays a role in immune cell activation and may have implications in immune responses and cancer....




VAV3

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

GDPD5

GOLT1A, also known as Golgi transport 1A protein, is a member of the Golgi transport family involved in the regulation of vesicular trafficking within cells, particularly in the context of the Golgi apparatus. The Golgi apparatus is a vital organelle responsible for processing, sorting, and modifying proteins and lipids synthesized in the endoplasmic reticulum (ER) before they are transported to their final destinations. While specific details about GOLT1A are limited, proteins within the Golgi transport family are often involved in mediating the movement of cargo vesicles between different compartments of the Golgi apparatus and between the Golgi apparatus and other cellular...

GOLT1A

SNX11 (Sorting Nexin 11): SNX11 is a gene that encodes a protein involved in membrane trafficking and vesicle sorting within cells. It plays a role in endosomal and lysosomal functions. SNX11 is important for cellular processes such as receptor recycling and degradation....



SNX11

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

GPSM1

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

UNC119B

UGT1A6 (UDP Glucuronosyltransferase Family 1 Member A6): UGT1A6 is a gene that encodes an enzyme from the UDP glucuronosyltransferase family. These enzymes play a vital role in phase II metabolism, where they facilitate the conjugation of drugs, toxins, and endogenous substances with glucuronic acid, aiding in their elimination from the body. UGT1A6's function is essential for detoxification processes and maintaining overall metabolic balance....

UGT1A6

VAV2 (Vav Guanine Nucleotide Exchange Factor 2): VAV2 is a guanine nucleotide exchange factor (GEF) that is primarily involved in transducing signals from tyrosine kinase receptors to Rho GTPases, affecting cell morphology, motility, and proliferation. It plays a significant role in various cellular processes, including cytoskeletal dynamics and cell signaling pathways. Dysregulation of VAV2 has been linked to cancer progression, making it a subject of interest for understanding tumorigenesis and metastasis....




VAV2

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



MMUT

GHRL (Ghrelin): GHRL is a gene that encodes ghrelin, a peptide hormone known as the "hunger hormone." Ghrelin stimulates appetite and food intake by acting on the hypothalamus. It plays a role in regulating meal initiation and body weight....

GHRL

BRK1 (Breakpoint cluster region kinase 1): Similar to MMP15's pivotal role in extracellular matrix (ECM) remodeling, BRK1 is a crucial player in cellular signaling pathways that regulate cell proliferation, differentiation, and migration. As a member of the breakpoint cluster region kinase family, BRK1 modulates intracellular signaling cascades, influencing various physiological processes such as cell cycle progression, cytoskeletal organization, and cell adhesion. Additionally, BRK1 has been implicated in the regulation of immune responses and oncogenic signaling pathways, highlighting its significance in both normal physiological functions and disease pathogenesis. Dysregulation of BRK1 expression or activity has been associated with cancer progression, inflammatory...



BRK1


MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1): MFHAS1, also known as MASL1, is implicated in immune responses and inflammation. It has been studied in the context of malignant fibrous histiocytoma, a type of cancer. This gene is thought to play a role in tumorigenesis and immune regulation....

MFHAS1

VIPR1 (Vasoactive Intestinal Peptide Receptor 1): VIPR1 encodes a receptor for vasoactive intestinal peptide, a neuropeptide involved in a wide range of physiological processes, including smooth muscle relaxation, immune regulation, and water and ion flux in the lungs. It plays a significant role in circadian rhythms and is implicated in various disorders, including asthma and pulmonary hypertension....

VIPR1

NCK2 (NCK Adaptor Protein 2): NCK2 is an adaptor protein that plays a key role in linking receptor tyrosine kinases with downstream signaling pathways involved in cell growth, migration, and cytoskeletal reorganization. It participates in various signaling networks that are essential for cellular responses to external stimuli. NCK2 dysregulation has been associated with cancer progression and metastasis, highlighting its importance in cell signaling and tumorigenesis....

NCK2

GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1): GCNT1 is involved in the biosynthesis of mucins, which are components of mucus. It plays a role in the modification of glycoproteins, impacting cell signaling and immune response. Dysregulation of GCNT1 has implications in various diseases, including cystic fibrosis and certain cancers....

GCNT1

VLDLR (Very Low Density Lipoprotein Receptor): VLDLR is a component of the lipid metabolism pathway, facilitating the uptake of triglyceride-rich lipoproteins into cells for energy utilization or storage. It plays a critical role in neuronal migration and cerebellar development. Mutations in VLDLR are associated with a rare genetic disorder known as dysequilibrium syndrome, characterized by cerebellar hypoplasia and cognitive disability, emphasizing its role in lipid metabolism and brain development....

VLDLR

CLMP (CXADR Like Membrane Protein): CLMP is involved in cell adhesion and is important for the integrity of tight junctions in epithelial cells. It's crucial for gastrointestinal tract development, and mutations in CLMP have been associated with congenital short bowel syndrome, a severe developmental disorder....



CLMP

MAN1A2 (Mannosidase Alpha Class 1A Member 2): MAN1A2 is an enzyme involved in the modification of N-linked oligosaccharides during glycoprotein biosynthesis. It plays a role in protein processing and quality control in the endoplasmic reticulum, and its dysfunction can affect protein folding and cellular homeostasis....

MAN1A2

GJA10 (Gap Junction Protein Alpha 10): GJA10 encodes a connexin protein that forms gap junction channels, allowing for the direct transfer of ions and small molecules between cells. This intercellular communication is crucial for maintaining tissue homeostasis and supporting coordinated cellular functions. GJA10 is particularly important in the eye, where it contributes to the transparency and function of the lens. Mutations in GJA10 have been linked to cataract formation and other ocular disorders....

GJA10

APOB (Apolipoprotein B): Apolipoprotein B is a principal component of low-density lipoproteins (LDL), which are carriers of cholesterol in the blood. APOB exists in two main isoforms, APOB-48 and APOB-100, with the latter being integral to the structure of LDL particles. APOB-100 serves as a ligand for LDL receptors, facilitating the uptake of LDL particles by cells and thus playing a crucial role in lipid metabolism and transport. Elevated levels of APOB-containing lipoproteins are strongly associated with an increased risk of atherosclerosis and cardiovascular disease, as they contribute to the formation of plaques that can narrow or block blood vessels....

APOB

VWA2 (Von Willebrand Factor A Domain Containing 2): VWA2 is involved in extracellular matrix (ECM) organization and cell-matrix adhesion, playing a role in tissue development and repair. It contains a Von Willebrand factor type A domain, typically associated with mediating interactions between proteins. VWA2's function in ECM stability and cell adhesion is critical for proper tissue architecture and function, with potential relevance to wound healing and diseases characterized by ECM dysregulation....

VWA2

ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3): ORMDL3 regulates the synthesis of sphingolipids, essential components of cell membranes and signaling molecules. Its activity is critical in maintaining cellular lipid homeostasis and modulating the inflammatory response. Variants in the ORMDL3 gene have been associated with an increased risk of asthma and other allergic diseases, highlighting its role in immune regulation and the pathogenesis of inflammatory conditions....



ORMDL3

TYK2 (Tyrosine Kinase 2): TYK2 encodes a tyrosine kinase enzyme that plays a role in signaling pathways mediated by various cytokines, including interferons and interleukins. TYK2 is involved in immune responses and inflammation regulation....




TYK2

SLC30A9 (Solute Carrier Family 30 Member 9): SLC30A9 is a zinc transporter, involved in the regulation of zinc homeostasis in cells. Zinc is essential for numerous biological processes, and dysregulation of zinc transport can have implications for cell growth, immune function, and neuronal development....



SLC30A9

PAM (Peptidylglycine Alpha-Amidating Monooxygenase): PAM encodes an enzyme involved in the amidation of peptide hormones, a critical step in the maturation of neuropeptides and peptide hormones. It plays a role in neurotransmitter synthesis and hormone production. Dysregulation of PAM can impact neuropeptide function and hormonal signaling....



AMN1 (Amnion Associated Transmembrane Protein 1): AMN1 is a gene that codes for a transmembrane protein associated with the amnion, a critical membrane surrounding the developing fetus during pregnancy. While its precise functions are still under investigation, research suggests its involvement in amniotic fluid regulation and potentially fetal development. AMN1's significance in prenatal physiology and its potential implications in congenital disorders make it a subject of continued scientific interest....

AMN1

FUT3 (Fucosyltransferase 3): FUT3 is a gene encoding a fucosyltransferase enzyme responsible for the synthesis of Lewis blood group antigens. These antigens are present on the surface of red blood cells and mucosal epithelial cells and are involved in cell adhesion and signaling....

FUT3

ELAVL2 (ELAV Like RNA Binding Protein 2): ELAVL2 is an RNA-binding protein that is involved in post-transcriptional regulation of gene expression. It is a member of the ELAVL family and plays a role in mRNA stabilization and translation. ELAVL2 has been associated with neurodevelopmental disorders and neurological conditions....

ELAVL2

ABT1, also known as Activator of Basal Transcription 1, is a protein that plays a critical role in the regulation of gene expression by promoting the initiation of transcription. It is a component of the RNA polymerase I (Pol I) transcription machinery, which is responsible for transcribing ribosomal RNA (rRNA) genes to generate ribosomal RNA transcripts. One of the primary functions of ABT1 is its role as a transcription factor that binds to specific DNA sequences within the promoter regions of rRNA genes. By binding to these promoter sequences, ABT1 recruits other transcription factors and the RNA polymerase I complex to...

ABT1

GNGT2, also known as Guanine nucleotide-binding protein G(t) subunit gamma-T2, is a protein that belongs to the family of guanine nucleotide-binding proteins (G proteins). GNGT2 is a subunit of the transducin complex, which plays a critical role in signal transduction in photoreceptor cells of the retina. One of the primary functions of GNGT2 is its involvement in the phototransduction cascade, a process by which light stimuli are converted into electrical signals that can be interpreted by the brain. In the retina, photoreceptor cells contain light-sensitive proteins called opsins, which undergo a conformational change upon absorbing photons. This change activates the associated...

GNGT2

EXOC1L (Exocyst Complex Component 1 Like): EXOC1L is a less characterized component of the exocyst complex, which is involved in vesicle trafficking and exocytosis. It may play a role in the targeted delivery of vesicles to the plasma membrane, impacting processes such as cell signaling, membrane expansion, and secretion....

EXOC1L

SPP1 (Secreted Phosphoprotein 1): SPP1 encodes osteopontin, a protein involved in bone remodeling, immune responses, and tissue repair. It plays a role in inflammatory processes and is associated with various diseases, including autoimmune disorders and cancer....

Test categories

Cannot find what you are looking for??

Useful guides

Simple steps

Cannot find what you are looking for?

Symptoms

Cannot find what you are looking for?

MAML3

Your Cart

Tests containing this item