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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

DNA Fatigue Test

HFE (Homeostatic Iron Regulator): HFE is a gene that plays a crucial role in regulating iron absorption and maintaining iron balance in the body. Mutations in HFE can lead to hereditary haemochromatosis, a condition characterised by excessive iron accumulation, which may cause damage to organs.

KCTD15 (Potassium Channel Tetramerization Domain Containing 15): KCTD15 is a gene involved in neural development and the regulation of potassium channels. It plays a role in assembling potassium channel complexes, which are important for neuronal excitability. Dysregulation of KCTD15 may affect neural function.

KCTD15

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

NUDT9

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

MORC4

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

KANSL1

LMF2 (Lipase Maturation Factor 2): LMF2 is a gene that encodes a protein essential for the maturation and proper functioning of lipases, enzymes critical for lipid metabolism. It is involved in the processing and activation of lipases within the endoplasmic reticulum. Defects in LMF2 may contribute to dyslipidaemia and other metabolic disorders related to lipid metabolism.

LMF2

FANCA (Fanconi anaemia group A protein): FANCA is a gene that encodes a protein essential for the Fanconi anaemia (FA) DNA repair pathway, which helps maintain genomic stability. FANCA is involved in activating the FA core complex to recognise and repair DNA interstrand crosslinks (ICLs), harmful lesions that can obstruct DNA replication and transcription. By coordinating the assembly and recruitment of the FA core complex to damaged DNA, FANCA supports proper DNA repair and prevents genome instability.

FANCA

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

BMP6

PSD3 (Pleckstrin And Sec7 Domain Containing 3) is a gene that encodes a protein involved in intracellular trafficking and signalling. It contains a Sec7 domain, which is associated with guanine nucleotide exchange factors that activate ARF GTPases, key players in vesicle formation and trafficking. Dysfunction in PSD3 may impact cellular communication and transport processes.

PSD3

RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a gene that encodes a transcription factor involved in regulating gene expression. It contributes to key cellular processes, including cell differentiation and immune responses. Dysregulation of RUNX3 has been linked to cancer and developmental disorders.

RUNX3

TSLP (Thymic Stromal Lymphopoietin): TSLP is a cytokine that plays a crucial role in triggering allergic inflammation and regulating immune responses at the epithelial barrier. It acts on dendritic cells, encouraging a Th2-skewed immune response, which is fundamental to the development of allergic conditions such as asthma, atopic dermatitis, and eosinophilic oesophagitis. Research into TSLP centres on its potential as a therapeutic target, with insights into its mechanisms providing opportunities for innovative treatments of these disorders.

TSLP

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

PIK3AP1

RGS18 (Regulator of G Protein Signalling 18): RGS18 is a protein involved in the regulation of G protein-coupled receptor signalling, particularly in haematopoietic cells. It plays significant roles in platelet function and immune responses, and its dysregulation may affect blood coagulation and contribute to immune system disorders.

RGS18

RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is a protein involved in intracellular trafficking, specifically in recycling proteins and membranes from the endocytic recycling compartment. It plays a crucial role in maintaining cellular homeostasis and ensuring proper membrane traffic, influencing processes such as signal transduction and immune responses.

RAB11FIP2

LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule predominantly expressed in the limbic system of the brain. It plays a crucial role in synaptic plasticity and is involved in neural development and function. LSAMP has been studied in connection with neuropsychiatric disorders and may have implications for conditions such as schizophrenia.

LSAMP

MT1X (Metallothionein 1X): MT1X is a member of the metallothionein family, proteins that play key roles in metal ion balance and detoxification, as well as protecting cells from oxidative stress. Metallothioneins bind heavy metals, helping to neutralise their toxicity and support their metabolism and elimination. MT1X, like other metallothioneins, is involved in responses to heavy metal exposure, oxidative stress, and inflammation, and is linked to various diseases, including cancer, due to its influence on cell growth and programmed cell death.

MT1X

AK9 (Adenylate Kinase 9): Adenylate is a gene that encodes an enzyme from the adenylate kinase family, which catalyses the reversible transfer of phosphate groups between adenine nucleotides, mainly ATP and AMP. AK9 localises to the mitochondria, where it supports energy metabolism and nucleotide balance. By facilitating ATP-AMP interconversion, it helps regulate cellular energy levels and contributes to processes such as mitochondrial function, apoptosis, and stress responses. Dysregulation of AK9 may impact metabolic and cellular homeostasis.

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

PITX2

P2RY1 (Purinergic Receptor P2Y1): P2RY1 is a G-protein coupled receptor that responds to extracellular nucleotides such as ATP and ADP. It plays a crucial role in intracellular signalling pathways involved in platelet aggregation, regulation of vascular tone, and neurotransmission. Activation of P2RY1 is essential for triggering platelet aggregation following vessel injury, emphasising its importance in thrombosis and haemostasis. Dysregulation of P2RY1 signalling is associated with an increased risk of cardiovascular diseases, highlighting its significance in vascular health.

P2RY1

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

TBX2

PCDH7 (Protocadherin 7): PCDH7 is a gene that encodes a protein from the cadherin superfamily, involved in cell adhesion and neuronal connectivity. It plays a role in nervous system development and the maintenance of synaptic functions. Variations in PCDH7 have been linked to neurodevelopmental and psychiatric conditions, emphasising its importance in brain development and function.

PCDH7

SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule that supports the development of the cardiovascular and lymphatic systems. It is involved in cell-to-cell interactions and signalling pathways essential for vascular stability and immune function. Variations in SVEP1 have been associated with cardiovascular conditions and may influence immune-related disorders.

SVEP1

MAP4K1 (Mitogen-activated protein kinase kinase kinase kinase 1): MAP4K1 is a signalling protein, also known as HPK1 (Hematopoietic progenitor kinase 1), and a member of the STE20 kinase family. It plays an important role in immune cell signalling, where it regulates T-cell activation and differentiation by acting upstream in the MAP kinase pathway. Through its role in modulating the immune response, MAP4K1 is considered a potential target for immunotherapy, particularly in autoimmune diseases and cancer.

MAP4K1

R3HCC1L (R3H Domain and Coiled-Coil Containing 1-Like): R3HCC1L is a gene that is not well characterised but is thought to be involved in RNA binding and regulation. Its domain structure suggests a role in RNA metabolism and cellular processes. Although its exact functions are still under investigation, R3HCC1L may have implications for human health and disease.

R3HCC1L

KCNK17 (Potassium Channel Subfamily K Member 17): KCNK17 is a gene that encodes a member of the two-pore domain potassium (K⁺) channel family. It plays a crucial role in ion channel function and is involved in regulating cellular excitability and membrane potential.

KCNK17

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

SETBP1

PTBP2 (Polypyrimidine Tract Binding Protein 2): PTBP2 is a gene that encodes an RNA-binding protein involved in RNA splicing and the regulation of gene expression. It plays a crucial role in neuronal development and has been linked to neurodevelopmental disorders.

PTBP2

DRD1 (Dopamine Receptor D1): DRD1 is a gene that encodes a primary dopamine receptor in the brain, playing a central role in the dopaminergic system. It is involved in regulating reward, motivation, and motor control. Dysregulation of DRD1 has been associated with psychiatric disorders, including schizophrenia, as well as addictive behaviours.

DRD1

DRD3 (Dopamine Receptor D3): DRD3 is a gene that encodes a subtype of dopamine receptor expressed in the brain. It plays a role in regulating cognitive, emotional, and motor functions. Variants of DRD3 have been studied for their potential involvement in schizophrenia, Parkinson’s disease, and susceptibility to addictive behaviours.

DRD3

LMCD1 (LIM and Cysteine-Rich Domains 1): LMCD1 is a gene that encodes a protein involved in cardiac development and function. It plays a key role in regulating gene expression in heart muscle cells, influencing the development, structure, and maintenance of cardiac tissue. Alterations or dysfunctions in LMCD1 may affect heart performance and are associated with cardiovascular diseases, underlining its importance in understanding cardiac disorders and potential therapeutic targets.

LMCD1

TSPOAP1 (TSPO Associated Protein 1): TSPOAP1 is a gene that encodes a protein associated with the translocator protein (TSPO), which is involved in mitochondrial function and steroidogenesis. It plays a role in regulating cholesterol transport and mitochondrial respiration. While its specific functions are still being studied, TSPOAP1 may influence cellular energy metabolism and could have implications for neurodegenerative diseases and mood disorders.

TSPOAP1

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

NAA38

MYBPC3: The MYBPC3 gene encodes cardiac myosin-binding protein C, a key regulator of heart muscle contraction. Variants of this gene are a common cause of hypertrophic cardiomyopathy, a significant contributor to sudden cardiac death, especially in young athletes. It plays a crucial role in maintaining normal structure and function of the cardiac muscle.

MYBPC3

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

PFKP

ILRUN, also known as interleukin-like RUN domain-containing protein, is a recently identified protein that plays a role in immune regulation. Located within the cytoplasm, ILRUN contains a RUN domain, which facilitates protein-protein interactions. Although its precise function is still under investigation, ILRUN is thought to modulate immune responses, potentially influencing cytokine production, immune cell activation, and inflammatory processes. It has also been proposed as a potential biomarker for certain immune-related or inflammatory conditions.

ILRUN

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

CLEC12A

NSMCE1 (Nonspecific Mitochondrial Enzyme 1): NSMCE1 is a gene that encodes a protein involved in maintaining mitochondrial DNA integrity. It plays a role in the repair and replication of mitochondrial DNA, supporting proper mitochondrial function and energy production in cells.

NSMCE1

CA2 (Carbonic Anhydrase II): CA2 is a gene that encodes an enzyme essential for regulating pH and fluid balance in various tissues, including the kidney. It catalyses the reversible hydration of carbon dioxide, supporting respiratory gas exchange and acid-base equilibrium. Mutations in CA2 can impact bone and kidney function, contributing to conditions such as osteopetrosis and renal tubular acidosis.

P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for adenosine diphosphate (ADP) that plays a crucial role in platelet aggregation—an essential process in blood clot formation. It is a primary target for antiplatelet medications used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is important for maintaining cardiovascular health and managing clotting disorders.

P2RY12

TOMM40 (Translocase of Outer Mitochondrial Membrane 40): TOMM40 is a key protein involved in mitochondrial function, specifically in importing proteins into the mitochondria. As part of the TOM complex, TOMM40 assists in transporting nuclear-encoded proteins across the outer mitochondrial membrane so they can perform essential roles within the mitochondria. Variants of TOMM40 are notably linked to Alzheimer's disease, affecting the risk and age of onset. It has also been associated with other neurodegenerative disorders and age-related cognitive decline.

TOMM40

RABGAP1L (RAB GTPase Activating Protein 1-Like): RABGAP1L is a gene that encodes a protein involved in intracellular membrane trafficking by regulating RAB GTPases. It plays a key role in vesicle transport and overall cellular logistics. Dysregulation of RABGAP1L may disrupt cellular transport mechanisms and has been studied in relation to neurological disorders, where proper membrane trafficking is essential for neuronal function.

RABGAP1L

C6ORF47 (Chromosome 6 Open Reading Frame 47): C6ORF47 is a gene located on chromosome 6 that is relatively poorly characterised. As an open reading frame, it may encode a protein, although its exact functions remain unclear. Research into C6ORF47 could provide new insights into cellular processes and help broaden our understanding of the human genome.

C6ORF47

PKD2L1 (Polycystic Kidney Disease 2-Like 1): PKD2L1 is a transmembrane protein belonging to the polycystic kidney disease family, primarily located in sensory neurons of the peripheral nervous system and certain epithelial cells. It plays a crucial role in chemosensation and mechanosensation, particularly in detecting sour taste. Functioning as a non-selective cation channel, PKD2L1 facilitates ion influx in response to extracellular stimuli, initiating cellular responses. It is also involved in processes such as gastrointestinal sensory signalling and blood pressure regulation.

PKD2L1

MYEOV (Myeloma Overexpressed Gene): MYEOV is a gene that is frequently overexpressed in multiple myeloma and other cancers. It is believed to contribute to the proliferation and survival of cancer cells, making it a potential target for cancer treatment.

MYEOV

LPCAT2 (Lysophosphatidylcholine Acyltransferase 2): LPCAT2 is an enzyme that plays a vital role in the biosynthesis and remodelling of phospholipids, which are key components of cellular membranes. Predominantly found in the endoplasmic reticulum, LPCAT2 regulates lipid metabolism and helps preserve membrane integrity. It catalyses the acylation of lysophosphatidylcholine (LPC) to generate phosphatidylcholine (PC), an essential phospholipid in cell membranes, thereby influencing membrane composition and function.

LPCAT2

MYO18A (Myosin XVIIIA): MYO18A is a protein that represents a distinct type of myosin in the body. It plays important roles in the organisation of the cytoskeleton and cell migration, contributing to muscle development and function. Abnormalities in MYO18A are linked to muscle disorders and may be associated with certain types of cancer.

MYO18A

ID4 (Inhibitor Of DNA Binding 4, HLH Protein): ID4 is a regulator that influences gene transcription by controlling cell differentiation and proliferation. It belongs to the ID protein family, which modulates various developmental processes by inhibiting the binding of basic helix-loop-helix (bHLH) transcription factors. ID4 is involved in the development of several cancers, where it can function either as a tumour suppressor or an oncogene depending on the context. Studying ID4 provides important insights into cellular differentiation, stem cell biology, and cancer.

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene that reflects the regulation of the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. MCUR1 plays a key role in maintaining proper mitochondrial calcium levels, which are essential for energy production, cell survival, and overall mitochondrial function.



MCUR1

PWWP3B (PWWP Domain Containing 3B): PWWP3B is a gene that encodes a protein involved in chromatin organisation and gene regulation. Its PWWP domain suggests a role in epigenetic regulation. Dysfunction in PWWP3B may be linked to developmental disorders and cancers due to its impact on gene expression.

PWWP3B

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

POU2F3

OLFM4 (Olfactomedin 4): OLFM4 is a gene that encodes a secreted protein expressed in various tissues, including the gastrointestinal tract. While its functions are not fully understood, OLFM4 is linked to the regulation of stem cell proliferation and differentiation in the gut, suggesting a potential role in tissue regeneration and maintenance.

OLFM4

LURAP1 (Leucine Rich Adaptor Protein 1): LURAP1 is a gene that encodes a leucine-rich protein believed to be involved in signal transduction pathways. Although its precise functions are not yet fully understood, LURAP1 may play a role in regulating cellular processes such as cell migration and cytoskeletal organisation.

LURAP1

CPXM1 (Carboxypeptidase X, M14 Family Member 1): CPXM1 is a protein belonging to the metallocarboxypeptidase family and is involved in extracellular matrix remodelling. It plays a role in cell adhesion, migration, and key physiological processes such as wound healing and inflammation. Dysregulation of CPXM1 may be associated with tissue remodelling disorders and certain types of cancer.

CPXM1

RGS7 (Regulator of G Protein Signalling 7): RGS7 is a protein that regulates G protein-coupled receptors (GPCRs) and modulates their signalling pathways. It plays an important role in neuronal function and has been linked to various neurological disorders.

RGS7

APOE (Apolipoprotein E): APOE is a protein mainly produced by the liver and astrocytes in the brain that plays a crucial role in lipid metabolism and transport, particularly within the central nervous system (CNS). It assists in clearing lipoproteins from the bloodstream and redistributes cholesterol and other lipids to cells through interaction with cell surface receptors. APOE occurs in three common isoforms—APOE2, APOE3, and APOE4—each influencing lipid metabolism differently, with APOE4 having specific implications for disease risk.

APOE

TTYH2 (Tweety Family Member 2): TTYH2 is a gene that encodes a protein belonging to the Tweety family. This protein is known to have ion channel activity, particularly involving chloride ions. Proteins in the Tweety family play important roles in ion transport across cell membranes, contributing to cellular homeostasis, regulation of cell volume, and maintenance of ion balance. While the full functions of TTYH2 are still under investigation, it may have significant roles in cellular physiology.

TTYH2

MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8 is a gene that encodes a protein involved in matrix remodelling, an important process for tissue development and repair. While its specific functions are still being studied, MXRA8’s role in extracellular matrix interactions suggests it may contribute to tissue homeostasis and regeneration, with potential implications for tissue engineering and regenerative medicine.

MXRA8

ORM1, also known as Orosomucoid 1 or Alpha-1-acid glycoprotein 1, is a glycoprotein primarily produced in the liver and released into the bloodstream. It is part of the acute-phase reactant proteins, which are synthesised in response to inflammation, infection, or tissue injury. ORM1 plays a key role in modulating the immune response and inflammation. During acute-phase reactions, its production is increased by pro-inflammatory cytokines, such as interleukin-6 (IL-6) and tumour necrosis factor-alpha (TNF-α). ORM1 helps regulate inflammation by binding to various molecules, including drugs, hormones, and lipids, and influencing their distribution.

ORM1

TCF12 (Transcription Factor 12): TCF12 is a member of the basic helix-loop-helix (bHLH) transcription factor family, involved in regulating gene expression during development and cell differentiation. TCF12 plays a key role in nervous system and muscle tissue development, influencing cell fate decisions and tissue formation. Mutations in TCF12 are associated with craniosynostosis, a condition characterised by the premature fusion of skull bones, highlighting its importance in craniofacial development. Studying TCF12 provides valuable insights into developmental biology and the genetic basis of congenital disorders.

TCF12

TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine that plays a crucial role in regulating cell growth, proliferation, differentiation, and apoptosis. It is essential for embryonic development and tissue repair and has been associated with various conditions, including cancer and fibrotic diseases.

TGFB2

ZNF516 (Zinc Finger Protein 516): ZNF516 is a transcriptional regulator that can function as either a repressor or activator in gene expression pathways controlling cell differentiation, proliferation, and apoptosis. It plays a crucial role in cardiac development and function, with dysregulation linked to cardiovascular diseases. ZNF516 has also been associated with tumour suppression, making it a potential target in cancer therapy and an important factor in maintaining cellular homeostasis.

ZNF516

SCIN (Scinderin): SCIN is a gene that encodes an actin-severing protein involved in regulating actin cytoskeleton dynamics. By modulating actin filament organisation, SCIN plays a role in cellular processes such as cell motility, secretion, and membrane trafficking. While its exact mechanisms are still being studied, SCIN may influence physiological functions and pathological processes, including cell migration and invasion in cancer.

SCIN

PDE3B (Phosphodiesterase 3B): PDE3B is an enzyme that plays a crucial role in regulating lipid and glucose metabolism. It is involved in the breakdown of cyclic AMP (cAMP), a signalling molecule, thereby affecting processes such as lipolysis and insulin secretion. Dysregulation of PDE3B has implications for metabolic disorders, including obesity and diabetes.

PDE3B

LONP2 (Lon Peptidase 2, Mitochondrial): LONP2 is a protein involved in mitochondrial quality control within the cell. It encodes a mitochondrial protease responsible for breaking down damaged or misfolded mitochondrial proteins. Proper LONP2 function is vital for maintaining mitochondrial health, and dysfunction can contribute to mitochondrial disorders and diseases associated with ageing.

LONP2

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

LRRC4C

NRG1 (Neuregulin 1): NRG1 is a signalling protein that plays a key role in neural development and synaptic plasticity. It is essential for the proper formation and function of the nervous system and has been associated with various neurological and psychiatric disorders, including schizophrenia.

NRG1

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

PDE8B

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

INPPL1

TIMP4 (TIMP Metallopeptidase Inhibitor 4): TIMP4 is a protein that regulates metalloproteinases, enzymes responsible for breaking down components of the extracellular matrix. TIMP4 plays a key role in tissue remodelling and is important for processes such as wound healing and angiogenesis.

TIMP4

AFF3 (AF4/FMR2 Family Member 3): AFF3 is a gene involved in transcriptional regulation and chromatin organisation. It belongs to the AF4/FMR2 family, which plays roles in controlling gene expression. AFF3 may help regulate gene transcription, influencing the development and function of various cell types.

AFF3

PTPRM (Protein Tyrosine Phosphatase Receptor Type M): PTPRM is a receptor-type protein tyrosine phosphatase involved in cell signalling and regulation of tyrosine phosphorylation. It contributes to processes such as cell adhesion, migration, and neuronal development. Dysregulation of PTPRM has been linked to cancer progression and certain neuronal disorders.

PTPRM

NAV3 (Neuron Navigator 3): NAV3 is a gene involved in neuronal migration and axonal guidance, playing a key role in brain development. As a member of the neuron navigator family, it aids in the proper formation of neural networks. Alterations in NAV3 have been linked to neurological disorders such as Alzheimer’s disease and schizophrenia, emphasising its significance in maintaining neural structure and function.

NAV3

LIN7C (Lin-7 Homolog C, Crumbs Cell Polarity Complex Component): LIN7C is a protein that represents the role of the LIN7 family in establishing and maintaining cell polarity. It is crucial for proper cell function and tissue organisation, particularly in neural and epithelial cells. Mutations or dysregulation of LIN7C can disrupt cell polarity and signalling, potentially contributing to developmental abnormalities or disease.

LIN7C

MUC1 (Mucin 1): MUC1 is a gene that encodes a glycoprotein found on the surface of various epithelial cells, including those lining the respiratory and digestive tracts. It plays important roles in protection, lubrication, and cell signalling. Abnormal expression of MUC1 is linked to the development of several cancers.

MUC1

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

PDGFB

NRXN1 (Neurexin 1): NRXN1 is a neuronal cell adhesion molecule that plays a key role in synapse formation and function. It is crucial for effective neural communication and has been linked to several neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and intellectual disability.

NRXN1

PRRC2A (Proline-Rich Coiled-Coil 2A): PRRC2A is a protein-coding gene involved in essential cellular processes, including cell division and gene regulation. It features proline-rich domains and coiled-coil regions, which are crucial for protein-protein interactions. Although its exact functions are still under investigation, PRRC2A is linked to certain cancers and may affect cell growth and differentiation.

PRRC2A

TOX3 (TOX High Mobility Group Box Family Member 3): TOX3 is a member of the high mobility group (HMG) box family and plays a role in transcriptional regulation. It has been studied in connection with breast cancer, as genetic variants in TOX3 have been linked to an increased risk of developing the disease.

TOX3

MRPS31 (Mitochondrial Ribosomal Protein S31): MRPS31 is a component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a key role in producing proteins required for proper mitochondrial function and energy generation. Defects in MRPS31 can lead to mitochondrial disorders affecting multiple body systems.

MRPS31

NUDT2 (Nudix Hydrolase 2): NUDT2 is an enzyme that regulates the balance of diadenosine polyphosphates, molecules involved in cellular signalling. It plays a key role in maintaining proper levels of these signalling molecules, which is important for various cellular processes, including stress responses and energy metabolism.

NUDT2

CAMK1G (Calcium/Calmodulin-Dependent Protein Kinase IG): CAMK1G is a member of the CaMK kinase family involved in calcium signalling pathways. This kinase is activated by calcium influx and calmodulin binding, triggering the phosphorylation of various proteins that regulate processes such as gene expression, cell cycle progression, and synaptic transmission. CAMK1G plays a key role in neuronal function and plasticity, contributing to learning and memory. Dysregulation of CAMK1G activity has been linked to neurological disorders, highlighting its critical role in maintaining neuronal health and signalling balance.

CAMK1G

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

CCDC171

ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 is a protein involved in regulating actin cytoskeleton dynamics, cell morphology, and motility by controlling Rho GTPases. These GTPases are vital regulators of cellular processes such as vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27’s function in modulating cell adhesion and migration is especially important for tissue development, wound healing, and processes including tumour progression and metastasis.

ARHGAP27

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

KLF14

INSIG1 (Insulin-Induced Gene 1): INSIG1 is a protein encoded by the INSIG1 gene that plays a key role in regulating lipid metabolism and cholesterol balance within cells. INSIG1 acts as a crucial mediator of the feedback mechanism controlling cholesterol synthesis and uptake. It functions by binding to and inhibiting sterol regulatory element-binding proteins (SREBPs), transcription factors essential for the expression of genes involved in cholesterol and fatty acid production. By regulating SREBP activity, INSIG1 helps maintain proper cellular lipid levels and prevents excessive cholesterol accumulation.

INSIG1

TCERG1L (Transcription Elongation Regulator 1-Like): TCERG1L is a protein involved in the regulation of gene transcription, particularly during the elongation phase of RNA polymerase II activity. It plays a key role in ensuring accurate gene expression and influences the transcription of specific genes, thereby affecting cellular processes such as development and stress response. Understanding TCERG1L helps clarify the mechanisms of gene regulation and their relevance to diseases linked to transcriptional dysregulation.

TCERG1L

PTHLH (Parathyroid Hormone Like Hormone): PTHLH is a protein that plays a crucial role in the development of bone and cartilage. It functions similarly to parathyroid hormone and is involved in regulating bone remodelling and maintaining calcium homeostasis.

PTHLH

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

CELF2

MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. While its specific function remains under investigation, MFSD10 may contribute to nutrient transport and the maintenance of cellular homeostasis.

MFSD10 

RAP2B (RAP2B, Member of RAS Oncogene Family): RAP2B is a gene belonging to the RAS oncogene family, involved in intracellular signalling pathways that regulate cell proliferation, differentiation, and survival. It also plays a role in cytoskeletal organisation and vesicle trafficking. Disruptions in RAP2B signalling may contribute to cancer development.

RAP2B

KCNMB3 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3): KCNMB3 is part of a family of calcium-activated potassium channels that help regulate neuronal excitability and vascular tone. This gene is important for blood pressure regulation and cardiovascular function, and variations in KCNMB3 may be linked to hypertension and heart disease.

KCNMB3

MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10): MAP3K10 is a member of the MAP3K family, also known as MLK2 (Mixed Lineage Kinase 2). This kinase plays a key role in cellular signalling pathways that regulate cell proliferation, differentiation, and apoptosis. MAP3K10 acts as an upstream activator of the MAP kinase (MAPK) cascade, translating extracellular signals into cellular responses. It is essential for neuronal function, immune regulation, and stress response, and dysregulation of MAP3K10 has been linked to various physiological and pathological conditions.

MAP3K10

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

INAVA

OPCML (Opioid Binding Protein/Cell Adhesion Molecule Like): OPCML is a glycosylphosphatidylinositol-anchored protein involved in cell adhesion and signalling. It has been identified as a tumour suppressor, with its expression often reduced in various cancers, indicating a protective role against tumour development and progression.

OPCML

CLOCK (Circadian Locomotor Output Cycles Kaput): CLOCK is a gene that plays a central role in regulating circadian rhythms — the physical, mental, and behavioural changes that follow a 24-hour cycle. It helps control sleep-wake patterns and various physiological processes, including metabolism. Mutations in the CLOCK gene can disrupt normal circadian rhythms, contributing to sleep disorders, metabolic syndrome, and mood disturbances.

CLOCK

SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9): SCN9A encodes a voltage-gated sodium channel (NaV1.7) that is highly expressed in the peripheral nervous system, particularly in pain-sensing neurons (nociceptors). Mutations in SCN9A can cause gain- or loss-of-function effects, resulting in conditions such as erythromelalgia or congenital insensitivity to pain. As a key modulator of pain sensation, NaV1.7 is an important target for the development of new analgesics.

SCN9A

CDKN2B (Cyclin-Dependent Kinase Inhibitor 2B): CDKN2B is a gene that plays a crucial role in regulating the cell cycle by inhibiting cyclin-dependent kinases. It is essential for controlling the G1 phase of the cell cycle and preventing uncontrolled cell proliferation. Loss of CDKN2B function is commonly observed in various cancers, underscoring its role as a tumour suppressor and its potential as a target for cancer therapies.

CDKN2B

TNFAIP3 (TNF Alpha Induced Protein 3): TNFAIP3, also known as A20, is a crucial negative regulator of NF-κB signalling, aiding the control of inflammation and immune responses. It functions by ubiquitinating signalling molecules to halt NF-κB activation, thus preventing prolonged inflammation that could result in autoimmune disease. Mutations or dysregulation of TNFAIP3 are associated with various autoimmune and inflammatory conditions, making it a significant focus of therapeutic research.

OLFM4

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