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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

DOCK10 (Dedicator of Cytokinesis 10) is a gene involved in the remodeling of the actin cytoskeleton, contributing to the activation and movement of immune cells, particularly T-cells and B-cells. It plays a crucial role in regulating immune responses and may have implications in autoimmune disorders and immune system diseases.

DOCK10

SLC44A5 (Solute Carrier Family 44 Member 5) is a gene that encodes a membrane transport protein belonging to the solute carrier family. Although its specific functions and substrates are not fully defined, SLC44A5 is believed to play a role in essential cellular transport processes involved in maintaining homeostasis and normal cell function.

SLC44A5

ENPEP (Glutamyl Aminopeptidase) is a gene that encodes an enzyme involved in regulating blood pressure and fluid balance. It functions within the angiotensin pathway by processing angiotensin II, a molecule that causes blood vessels to constrict. Changes in ENPEP activity have been linked to hypertension and cardiovascular conditions, making it a focus of research in vascular health.

ENPEP

ADH1C (Alcohol Dehydrogenase 1C) is a gene that codes for an enzyme involved in alcohol metabolism, specifically converting ethanol to acetaldehyde in the liver. Variations in ADH1C can influence how individuals metabolise alcohol and have been linked to differences in alcohol sensitivity, risk of dependence, and related health outcomes.

ADH1C

DIO2 (Type 2 Deiodinase) is a gene that encodes an enzyme essential for thyroid hormone regulation. It converts the inactive thyroid hormone thyroxine (T4) into its active form, triiodothyronine (T3), by removing an iodine atom. Expressed in tissues like the thyroid gland, brain, and brown adipose tissue, DIO2 helps mediate local, tissue-specific responses to thyroid hormones and supports metabolic and developmental processes.

DIO2

DEXI (Dexamethasone-Induced Protein) is a gene induced by glucocorticoids such as dexamethasone and is associated with immune regulation and cellular stress responses. While its precise function is still under investigation, DEXI may play a role in modulating immune system activity and inflammation.

DEXI

EPS8L3 (Epidermal Growth Factor Receptor Pathway Substrate 8-Like 3) is a gene associated with the epidermal growth factor receptor (EGFR) signaling pathway, which plays a crucial role in regulating cell growth, survival, and response to external stimuli. Its involvement indicates potential roles in cellular communication and cancer development. Further studies may clarify its functions and significance in disease progression and treatment.

EPS8L3

SRBD1 (S1 RNA Binding Domain 1) is a gene that encodes an RNA-binding protein involved in post-transcriptional regulation. Such proteins play a crucial role in processes such as mRNA splicing, transport, and stability. Although the exact function of SRBD1 is still under study, it may be involved in regulating gene expression at the RNA level.

SRBD1

CSTA (Cystatin A) is a gene that encodes a cysteine protease inhibitor involved in protecting tissues such as skin and mucous membranes from protease-related damage. It plays a crucial role in maintaining skin integrity and supporting immune defence. Mutations in CSTA have been associated with skin disorders and increased susceptibility to infections.

CSTA

CTLA4 (Cytotoxic T-Lymphocyte-Associated Protein 4) is a gene that encodes a protein involved in downregulating immune responses by inhibiting T-cell activation. It competes with CD28 for binding to CD80/CD86 on antigen-presenting cells, helping to maintain immune balance and prevent overactivation. Dysregulation of CTLA4 is linked to autoimmune conditions and impaired immune tolerance.

CTLA4

AMY1A (Amylase, Alpha 1A) is a gene that codes for alpha-amylase, an enzyme that breaks down dietary starches into sugars. Variations in the AMY1A copy number are linked to differences in starch digestion and may affect metabolic health and dietary adaptation.

AMY1A

UBE4B (Ubiquitination Factor E4B) is a gene that encodes a protein involved in the ubiquitin-proteasome system, which helps regulate protein degradation and quality control in cells. It plays a key role in removing damaged or misfolded proteins, particularly in neurons. Disruption of UBE4B function has been linked to neurodegenerative diseases, highlighting its importance in cellular stress response and neurological health.

UBE4B

DNAJA4 (DnaJ Heat Shock Protein Family (Hsp40) Member A4) is a molecular chaperone that assists in the correct folding of proteins and prevents the accumulation of misfolded proteins. It plays a vital role in the cellular stress response, particularly during heat shock, supporting protein stability and cell survival.

DNAJA4

SLK (STE20-like kinase) is a serine/threonine kinase that regulates key cellular processes such as proliferation, migration, survival, and cytoskeletal organization. Primarily located in the cytoplasm, SLK affects cell shape and movement by phosphorylating proteins associated with cytoskeletal dynamics, including FAK, paxillin, and cortactin. It plays a pivotal role in signalling pathways that govern cell morphology and motility.

DSP (Desmoplakin) is a key protein that acts as a structural linker within cells, essential for the integrity and function of desmosomes—specialized cell-cell adhesion complexes found in epithelial and cardiac tissues. DSP plays a vital role in maintaining mechanical strength and cellular cohesion by anchoring intermediate filaments to desmosomal cadherins. This connection supports tissue stability in areas exposed to high mechanical stress, such as the skin, heart, and certain mucous membranes. Mutations in the DSP gene are linked to various genetic disorders, including cardiomyopathies and skin diseases, underscoring its importance in tissue architecture and function.

ABLIM1 (Actin Binding LIM Protein 1) is a protein that helps organise the actin cytoskeleton — a structural network vital for cell movement, shape, and division. It plays key roles in muscle development and neural function, with disruptions linked to certain muscular and neurological disorders.

ABLIM1

SATB1 (SATB Homeobox 1) is a DNA-binding protein that plays a crucial role in organising chromatin structure and regulating gene expression, particularly in T cells. It helps shape nuclear architecture by anchoring chromatin loops and controlling genes involved in T cell development and immune function. Changes in SATB1 expression have been linked to immune regulation and various cancers.

SATB1

SOCS2 (Suppressor of Cytokine Signaling 2) is a protein that regulates the cytokine signaling pathway, helping maintain immune balance and prevent excessive inflammation. It modulates signals from growth hormones and various cytokines, influencing cell growth, differentiation, and survival.

SOCS2

ICA1L (Islet Cell Autoantigen 1-Like) is a gene linked to proteins that play a role in neuroendocrine secretion, specifically within pancreatic beta cells. It is thought to be involved in regulating insulin secretion and may be associated with autoimmune responses in diabetes. Studying ICA1L could provide valuable insights into the development of autoimmune diabetes and help identify potential therapeutic targets.

ICA1L

DLK1 (Delta Like Non-Canonical Notch Ligand 1) is a transmembrane protein that plays a crucial role in regulating essential developmental processes such as adipogenesis and neurogenesis. It acts as a modulator of Notch signaling pathways and is involved in metabolic regulation as well as cancer progression.

DLK1

ADAMTSL1 (ADAMTS Like 1) is a gene that belongs to the ADAMTS family, known for its roles in extracellular matrix organization and cell-matrix interactions. Although its exact function is still being researched, its similarity to metalloproteinases indicates a role in tissue remodeling, development, and cell signaling. Changes in ADAMTSL1 may impact processes such as cell adhesion, migration, and angiogenesis, with possible associations to developmental and matrix-related disorders.

ADAMTSL1

SORBS3 (Sorbin and SH3 Domain Containing 3), also known as vinexin, is a gene involved in cytoskeletal organisation and cell signalling. It helps connect the cytoskeleton to the cell membrane and participates in pathways that regulate cell movement and adhesion. Changes in SORBS3 function may impact cellular structure and have been linked to cancer progression and metastasis.

SORBS3

ACYP2 (Acylphosphatase 2) is a gene that encodes an enzyme involved in breaking down acylphosphates, playing a crucial role in cellular energy metabolism. It contributes to muscle function, potentially impacting muscle efficiency and stamina. Variations in ACYP2 have been linked to aging and related conditions, underlining its possible connection to energy regulation and lifespan.

ACYP2

DLC1 (Deleted in Liver Cancer 1) is a tumor suppressor gene that plays a crucial role in regulating cell behavior. It encodes a Rho GTPase-activating protein, which helps control cell shape, movement, and growth. Loss or inactivation of DLC1 is common in various cancers, and efforts to restore its function are being explored as a potential cancer treatment.

DLC1

ACOXL (Acyl-CoA Oxidase-Like) is a protein related to the acyl-CoA oxidase family, which plays a key role in the β-oxidation of very long-chain fatty acids within peroxisomes. While its exact metabolic function is not yet fully understood, ACOXL is thought to contribute to lipid metabolism and the regulation of fatty acid breakdown. Studying ACOXL may provide insights into metabolic disorders and diseases linked to lipid storage and oxidation.

ACOXL

SLC44A1 (Solute Carrier Family 44 Member 1) is a gene that encodes a protein responsible for transporting choline, an essential nutrient involved in producing the neurotransmitter acetylcholine and maintaining cell membrane structure. This transporter supports key processes like nerve signalling and cell health. Disruptions in choline transport may affect brain function and have been linked to neurological disorders such as Alzheimer’s disease.

SLC44A1

ADGRL4 (Adhesion G Protein-Coupled Receptor L4), also known as ELTD1, is a protein involved in angiogenesis and vascular development. It plays a key role in regulating endothelial cell function and the formation of new blood vessels, influencing processes such as wound healing, cancer progression, and cardiovascular health.

ADGRL4

CSNK1G1 (Casein Kinase 1 Gamma 1) is a gene that encodes a protein belonging to the casein kinase 1 family, which plays a role in essential cellular functions such as cell division, regulation of the circadian rhythm, and Wnt signaling. Through its involvement in Wnt signaling, CSNK1G1 may affect development and holds potential significance in cancer biology.

CSNK1G1

PDE6C (Phosphodiesterase 6C) is a gene that encodes a subunit of the phosphodiesterase 6 enzyme, which is crucial for phototransduction in the retina. This process transforms light into electrical signals within photoreceptor cells, enabling vision. Mutations in PDE6C are linked to visual impairments and retinal disorders, underscoring its vital role in visual function.

PDE6C

CWF19L2 (Cell Cycle and WD Repeat Domain-Containing Protein 19-Like 2) is a gene that encodes a protein with WD repeat domains, which are known for facilitating protein-protein interactions. While its exact function is not fully understood, it is believed to play a role in cellular signalling or regulatory processes, with ongoing research aimed at clarifying its specific contributions.

CWF19L2

ACTL7B (Actin-Like 7B) is a member of the actin family, a group of proteins that form key components of the cell’s cytoskeleton. Actins play vital roles in maintaining cell shape, facilitating movement, and supporting cell division. Although the precise function of ACTL7B is not yet fully understood, it is believed to contribute to cell structure and function, particularly in reproductive cells.

ACTL7B

CSNK2A1 (Casein Kinase 2 Alpha 1) is a gene that encodes the alpha subunit of casein kinase 2, a serine/threonine protein kinase involved in regulating cell growth, proliferation, and signal transduction. Altered activity of CSNK2A1 has been associated with cancer development and certain developmental disorders.

CSNK2A1

CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9) is an enzyme that plays a vital role in metabolising many drugs and natural compounds in the body. It assists the liver in detoxifying and clearing these substances. Variations in the CYP2C9 gene can influence how individuals process medications, affecting drug effectiveness and side effects, which is important for personalised medicine and dosing decisions.

CYP2C9

GTPBP10 (GTP-binding protein 10) is a gene that encodes a protein involved in cellular regulation through interactions with guanine nucleotides. As a member of the GTP-binding protein family, GTPBP10 is associated with processes such as protein synthesis, ribosome assembly, and mitochondrial function. Although its exact roles are still being studied, it may contribute to GTPase activity and play a part in maintaining cellular and mitochondrial homeostasis.

GTPBP10

DLG2 (Discs Large Homolog 2) is a gene that encodes a protein belonging to the membrane-associated guanylate kinase (MAGUK) family, which plays a crucial role in synaptic assembly and function. This protein is vital in the nervous system, supporting synaptic plasticity and neuronal signaling. Alterations in DLG2 have been linked to neurological disorders, underlining its significance in brain development and function.

DLG2

GALNT13 (Polypeptide N-Acetylgalactosaminyltransferase 13) is a gene that encodes an enzyme involved in the initiation of O-linked glycosylation—a crucial post-translational modification process. It transfers N-acetylgalactosamine (GalNAc) to specific protein sites within the Golgi apparatus, influencing protein trafficking, secretion, and interactions on the cell surface. GALNT13 plays a significant role in cell signalling, adhesion, and immune response, with its dysregulation associated with diseases such as cancer and metabolic disorders.

GALNT13

EDNRA (Endothelin Receptor Type A) is a receptor that binds endothelins, peptides involved in regulating blood vessel constriction and blood pressure. It plays a significant role in cardiovascular function and may contribute to the onset of cardiovascular diseases.

EDNRA

CTNNA2 (Catenin Alpha 2) is a gene involved in cell adhesion and signalling, playing a key role in the nervous system. It contributes to synaptic plasticity and neuronal connectivity, essential for brain development and function. Alterations in CTNNA2 have been associated with neurological disorders.

CTNNA2

FAAP24 (Fanconi Anemia-Associated Protein 24) is a crucial protein associated with Fanconi anemia, a rare genetic disorder characterised by bone marrow failure and an elevated risk of cancer. FAAP24 plays a vital role in the DNA repair process, aiding in the preservation of genomic stability. It is involved in the complex mechanisms that safeguard the integrity of our genetic material by coordinating DNA repair functions.

FUT2 (Fucosyltransferase 2) is a gene that encodes an enzyme involved in the synthesis of histo-blood group antigens and the determination of secretor status. It catalyses the transfer of fucose to specific molecules, enabling the production of glycoproteins and glycolipids found in bodily fluids and epithelial tissues. FUT2 activity influences the expression of the H antigen — a key precursor to ABO blood group antigens — and plays a critical role in whether these antigens are present in secretions like saliva.

FUT2

NIPSNAP3A (Nipsnap Homolog 3A) is a gene that encodes a protein believed to play a role in intracellular trafficking and mitochondrial function. Although its precise function is not fully understood, it is thought to contribute to cellular metabolism and energy production. Ongoing research into NIPSNAP3A may provide insights into mitochondrial health and metabolic disorders.

NIPSNAP3A

VMP1 (Vacuole Membrane Protein 1) is a gene involved in autophagy, a vital cellular process for breaking down and recycling cellular components. It plays a key role in the formation of autophagosomes, which help maintain cellular balance. Dysregulation of VMP1 can disturb cell homeostasis and has been associated with conditions such as pancreatitis and certain cancers.

VMP1

GSTM3 (Glutathione S-Transferase Mu 3) is a gene that encodes an enzyme from the glutathione S-transferase family, which helps detoxify harmful compounds. It plays a crucial role in metabolising carcinogens, drugs, and byproducts of oxidative stress. Variations in GSTM3 may affect individual susceptibility to cancer, neurodegenerative diseases, and other conditions linked to detoxification pathways.

GSTM3

CXCR2 (C-X-C Motif Chemokine Receptor 2) is a receptor that binds C-X-C motif chemokines, such as CXCL5, and is primarily present on neutrophils. It plays a crucial role in guiding neutrophil movement and activation during inflammation. CXCR2 is implicated in various pathological conditions, including inflammatory diseases, cancer, and chronic obstructive pulmonary disease (COPD), making it a significant target for therapeutic interventions.

CXCR2

VPS37B is a gene that encodes a protein involved in the endosomal sorting complex required for transport (ESCRT) machinery. It plays a key role in intracellular membrane trafficking and protein sorting, particularly in the formation of multivesicular bodies (MVBs). By helping to direct ubiquitinated proteins toward lysosomal degradation, VPS37B contributes to maintaining cellular homeostasis and regulating signal transduction pathways.

VPS37B

ARRB1 (Arrestin Beta 1) is a protein that plays a crucial role in regulating G protein-coupled receptor (GPCR) signalling. It is involved in the desensitisation and internalisation of activated GPCRs, helping to switch off downstream signals. ARRB1 is important for processes such as sensory perception, neurotransmission, and hormonal regulation.

ARRB1

IRX6 (Iroquois Homeobox 6) is a gene that encodes a transcription factor from the Iroquois homeobox family, known for its role in early embryonic development. It contributes to the formation and patterning of organs and tissues, particularly in the heart and craniofacial regions. Alterations in IRX6 may be linked to developmental abnormalities and are of interest in studies of congenital and craniofacial disorders.

IRX6

DIAPH3 (Diaphanous-Related Formin 3) is a gene that encodes a protein involved in regulating the actin cytoskeleton, which is essential for cell shape, movement, and adhesion. It also plays a key role in cell division and has been linked to conditions like auditory neuropathy and disorders affecting cellular motility.

DIAPH3

SLC4A4 (Solute Carrier Family 4 Member 4) is a gene that encodes a sodium bicarbonate cotransporter involved in regulating acid-base balance in the body. Mainly expressed in the kidneys and pancreas, it plays a key role in bicarbonate reabsorption and pH regulation. Disruptions in SLC4A4 function can impair the body's ability to maintain acid-base homeostasis, contributing to conditions such as renal tubular acidosis.

SLC4A4

SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5) is a gene that encodes a protein responsible for regulating enzyme activity in the skin. This protein helps maintain skin barrier integrity and supports immune defence. Mutations in SPINK5 are linked to Netherton syndrome, a condition marked by skin inflammation, scaling, and increased allergy risk.

SPINK5

AKR1A1 (Aldo-Keto Reductase Family 1 Member A1) is a gene that encodes an enzyme involved in cellular detoxification and metabolism. It helps reduce aldehydes and ketones, contributing to the regulation of oxidative stress and the breakdown of harmful compounds. AKR1A1 also plays a role in glucose and steroid metabolism, as well as the synthesis of prostaglandins and neurotransmitters, supporting overall cellular balance and defence against oxidative damage.

AKR1A1

DES (Desmin) is a gene that encodes an intermediate filament protein essential for maintaining the structural stability of muscle cells. It helps preserve the integrity and function of skeletal and cardiac muscle tissues. Mutations in DES are associated with muscle disorders, including myopathies and cardiomyopathies, underscoring its critical role in muscle health.

ADH4 (Alcohol Dehydrogenase 4) is an enzyme belonging to the alcohol dehydrogenase family. It plays a key role in the metabolism of various alcohols, including ethanol. Additionally, ADH4 is involved in converting retinol (vitamin A) into retinaldehyde, a crucial step for vision and overall retinoid metabolism.

ADH4

MICB (MHC Class I Polypeptide-Related Sequence B) is a gene that encodes a stress-induced protein involved in immune system activation. It acts as a ligand for the NKG2D receptor on natural killer (NK) cells and certain T cells, assisting the immune system in identifying and responding to infected or transformed cells. MICB expression rises under cellular stress conditions, such as viral infections or tumor formation, enhancing immune surveillance and targeted destruction of affected cells.

ASCC3

TPMT (Thiopurine S-Methyltransferase): TPMT is an enzyme that metabolises thiopurine drugs, such as azathioprine, mercaptopurine, and thioguanine, which are used in autoimmune diseases and cancer treatment. Genetic variations in TPMT affect enzyme activity, influencing drug breakdown and toxicity risk. Individuals with low TPMT activity are at higher risk of severe bone marrow suppression. Testing TPMT helps adjust thiopurine dosage to reduce adverse effects and improve treatment safety.

TPMT

AAK1 (AP2-Associated Kinase 1) is a gene that encodes a protein kinase involved in clathrin-mediated endocytosis — a key process cells use to internalise molecules from their surroundings. AAK1 helps regulate the internalisation and trafficking of cell surface receptors, supporting essential cellular functions such as signalling and membrane recycling.

AAK1

SLC24A2 (Solute Carrier Family 24 Member 2) is a gene that encodes a potassium-dependent sodium/calcium exchanger, which helps maintain calcium balance within cells. It is primarily expressed in the retina and brain, indicating important roles in vision and neural function. Changes or malfunctions in SLC24A2 may affect neurological and visual health.

SLC24A2

SLC22A23 (Solute Carrier Family 22 Member 23) is a gene that encodes a transporter protein involved in the movement of organic ions and small molecules across cell membranes. Although its precise function and substrates have not been completely defined, SLC22A23 is believed to play a role in transporting organic compounds in various tissues, potentially affecting drug metabolism and other physiological processes.

SLC22A23

ARHGAP9 (Rho GTPase Activating Protein 9) is a gene that encodes a protein involved in regulating Rho family GTPases—molecules that control cell shape, movement, and structure. By modulating these signalling pathways, ARHGAP9 plays a role in cell migration, adhesion, and growth. It has been studied in cancer research for its potential influence on tumour cell invasion and metastasis.

ARHGAP9

SLC35F1 (Solute Carrier Family 35 Member F1) is a gene that encodes a protein responsible for transporting nucleotide sugars across cellular membranes. These sugars are crucial for glycosylation — an essential process that modifies proteins, influencing their folding, stability, and function. By facilitating proper glycosylation, SLC35F1 plays a key role in sustaining cellular function, immune response, and may also impact disease processes such as cancer.

SLC35F1

GFI1 (Growth Factor Independent 1 Transcriptional Repressor) is a gene that encodes a transcriptional repressor involved in regulating hematopoiesis and immune function. It plays a key role in the development of neutrophils and T cells, as well as stem cell differentiation. Disruptions in GFI1 activity have been associated with immune deficiencies and blood-related cancers, highlighting its importance in immune and hematologic health.

GFI1

ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8) is an enzyme involved in remodeling the extracellular matrix, essential for tissue development and repair. It plays a role in regulating angiogenesis and may help inhibit tumour growth and the spread of cancer. Research on ADAMTS8 explores its impact on cancer progression and vascular diseases.

ADAMTS8

SHPRH (SNF2 Histone Linker PHD RING Helicase) is a gene that encodes a DNA helicase involved in repairing DNA damage and maintaining genomic stability. It plays a key role in the DNA damage response by helping fix double-strand breaks, which prevents mutations that could lead to cancer. SHPRH is recognised as a tumour suppressor, with mutations linked to higher risks of various cancers.

SHPRH

BSN (Bassoon Presynaptic Cytomatrix Protein) is a gene that encodes a protein essential for organising active zones at synaptic terminals. This protein supports neurotransmitter release and plays a key role in synaptic transmission and plasticity, which are critical for learning and memory. Changes in BSN function or expression may affect neurological health and have been linked to neuropsychiatric disorders.

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a mitochondrial enzyme involved in the metabolism of D-2-hydroxyglutarate, a cellular byproduct. It helps prevent the harmful buildup of this compound. Dysfunction of D2HGDH is linked to D-2-hydroxyglutaric aciduria, a condition associated with symptoms such as developmental delays, epilepsy, and heart problems.

D2HGDH

IRS1 (Insulin Receptor Substrate 1) is a crucial signalling protein that mediates the body’s response to insulin and growth factors. Serving as an adaptor, IRS1 links activated insulin receptors to various downstream pathways, regulating processes such as glucose uptake, glycogen synthesis, protein production, and cell growth. Dysregulation of IRS1 is associated with insulin resistance, type 2 diabetes, and may also contribute to cancer and cardiovascular diseases.

IRS1

ADGRB1 (Adhesion G Protein-Coupled Receptor B1) is a protein that belongs to the adhesion G protein-coupled receptor family. Also known as BAI1, it plays important roles in processes such as clearing apoptotic cells (phagocytosis) and supporting synaptic development in the brain.

ADGRB1

NUDT15 (Nudix Hydrolase 15) is an enzyme that plays a crucial role in the metabolism of thiopurine drugs, including azathioprine, mercaptopurine, and thioguanine. Genetic variations in NUDT15 can decrease its activity, increasing the risk of severe side effects such as bone marrow suppression. Testing for NUDT15 helps determine the appropriate thiopurine dosage to minimise toxicity and improve treatment safety.

NUDT15

ACVR1 (Activin Receptor Type 1) is a gene that encodes a receptor for activin, a protein involved in regulating cell growth and differentiation. This receptor plays a key role in signalling pathways that control how cells proliferate and develop. Mutations in ACVR1 are linked to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder marked by abnormal bone formation in soft tissues.

ACVR1

ADAM17 (A Disintegrin and Metalloproteinase 17) is an enzyme that regulates the release of membrane-bound proteins, such as growth factors, cytokines, and receptors. It plays a crucial role in cell signalling, inflammation, and tissue remodelling, and its dysregulation has been linked to conditions including arthritis, cancer, and cardiovascular disease.

ADAM17

H4C13 (Histone Cluster 4, H4C13) is a gene that encodes a component of histone H4, a core protein essential for chromatin structure in eukaryotic cells. Histones are key regulators of gene expression and DNA repair, playing a vital role in maintaining genomic stability.

H4C13

APBB1IP (Amyloid Beta Precursor Protein-Binding Family B Member 1 Interacting Protein), also known as RIAM, is a protein that plays a crucial role in integrin activation, which is vital for cell adhesion and migration. By linking Rap1 GTPases to the actin cytoskeleton, APBB1IP facilitates cell attachment to the extracellular matrix, impacting immune cell function, wound healing, and tumour metastasis. Its role in these processes makes it significant for research on immune regulation and cancer.

APBB1IP

SMIM21 (Small Integral Membrane Protein 21) is a gene that encodes a membrane protein whose role in cellular functions remains unclear. It might be involved in signalling or transport processes within the cell, but more research is required to understand its specific functions and potential effects on health and disease.

SMIM21

ADCY3 (Adenylate Cyclase 3) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a vital signalling molecule. ADCY3 plays a key role in regulating cellular processes such as neurotransmission and hormone signalling. It is also involved in neuropsychiatric disorders and metabolic regulation.

ADCY3

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha) is a gene that encodes a protein essential for allergic reactions. It binds to immunoglobulin E (IgE) and activates mast cells and basophils, triggering the release of histamine and other inflammatory mediators. This process contributes to allergy and asthma symptoms, making FCER1A a key target for therapies aimed at reducing allergic responses.

FCER1A

DOK6 (Docking Protein 6) is part of the DOK protein family and acts as both a substrate and regulator of tyrosine kinases. It plays a crucial role in signaling pathways that govern the growth, differentiation, and function of nerve cells, with potential relevance to neurological disorders.

DOK6

The AGT gene plays a vital role in regulating blood pressure and maintaining fluid balance in the body. Variations or mutations in the AGT gene can influence the risk of developing hypertension and other cardiovascular diseases. Understanding the function of AGT is essential for managing these health conditions.

ADAMTS18 is a gene that encodes an enzyme involved in the processing of extracellular matrix components. This enzyme plays a crucial role in tissue development and maintenance. Mutations in ADAMTS18 have been linked to abnormalities in the eyes, skin, and skeleton.

ADAMTS18

SOX4 (SRY-Box Transcription Factor 4) is a transcription factor involved in regulating embryonic development and determining cell fate. It plays essential roles in the development of the heart, pancreas, and lymphocytes. SOX4 also influences cancer progression by regulating cell growth, programmed cell death, and metastasis, highlighting its importance in both development and tumorigenesis.

SOX4

ADAM32 (ADAM Metallopeptidase Domain 32) is a member of the ADAM family of enzymes, known for their roles in cell adhesion and proteolytic processing of cell surface proteins. These enzymes play crucial roles in biological processes such as cell signaling, fertilisation, and cell migration. While the specific functions of ADAM32 are still being researched, it is thought to be involved in tissue remodelling, cell-cell interactions, and possibly reproductive functions.

ADAM32

DACH1 (Dachshund Homolog 1) is a transcription factor that assists in regulating gene expression within cells. It plays significant roles in processes such as development and cell differentiation. Depending on the context, particularly in various types of cancer, DACH1 can act either as a tumour suppressor or an oncogene.

DACH1

ACAN (Aggrecan) is a gene that encodes aggrecan, a key proteoglycan found in the extracellular matrix of cartilage and other connective tissues. Aggrecan is essential for maintaining cartilage structure and ensuring proper joint function. Mutations in ACAN can disrupt bone and cartilage development, leading to skeletal disorders such as spondyloepimetaphyseal dysplasia.

ACAN

KCTD9 (Potassium Channel Tetramerization Domain Containing 9) is a gene that encodes a protein involved in protein-protein interactions and the formation of protein complexes. It may contribute to the regulation of ion channels or other cellular processes through its role in complex assembly and signalling pathways.

KCTD9

AGMO (Alkylglycerol Monooxygenase) is a gene that encodes an enzyme involved in lipid metabolism, particularly in the breakdown of ether lipids. This enzyme contributes to the regulation of bioactive lipids, which influence cell signalling and inflammatory responses. Alterations in AGMO activity may be linked to lipid-related disorders and inflammatory conditions.

AGMO

GPSM1 (G Protein Signaling Modulator 1) is a gene that regulates G protein signaling pathways, which are vital for cellular responses to external signals. It is involved in cell polarization and directed movement. GPSM1 has been researched for its possible role in cancer, especially in tumor cell migration and invasion.

GPSM1

DLG5 (Discs Large Homolog 5) is a protein that is part of the Discs Large (DLG) family, involved in organising cellular structures and aiding signal transmission at cell junctions. It plays a vital role in maintaining the integrity of epithelial cells and may be associated with conditions such as inflammatory bowel diseases (IBD), including Crohn’s disease.

DLG5

MMUT (Methylmalonyl-CoA Mutase) is a gene that encodes a mitochondrial enzyme crucial for energy metabolism. It catalyses the conversion of methylmalonyl-CoA to succinyl-CoA, an important step in the breakdown of certain amino acids and fatty acids. This reaction supports the citric acid cycle and overall cellular energy production. Mutations in MMUT can cause methylmalonic acidemia (MMA), a rare metabolic disorder characterised by harmful accumulation of methylmalonic acid in the body.

MMUT

Death-Associated Protein (DAP) is a key regulator of cell death, playing an important role in apoptosis — the programmed cell death process. This mechanism is essential for maintaining healthy cells and preventing diseases like cancer. Understanding DAP’s function is crucial for studying the cell life cycle and developing treatments for conditions where cell death regulation is impaired.

DCDC2B (Doublecortin Domain Containing 2B) is a protein that belongs to the doublecortin family, known for its role in brain development. Proteins in this family contain doublecortin domains that bind to microtubules, helping guide neuronal migration and proper formation of the cerebral cortex. Proper function of DCDC2B is essential for normal brain development, and changes in this protein may be associated with neurological disorders and developmental issues.

DCDC2B

ATP2B4 is a gene that encodes a calcium pump responsible for removing calcium ions from cells. This pump plays a vital role in maintaining intracellular calcium balance, which is essential for muscle contraction, cell signalling, and nerve function. Proper regulation of ATP2B4 is important for cardiovascular health, and its dysfunction has been linked to heart-related diseases.

ATP2B4

CSF3R (Colony Stimulating Factor 3 Receptor) is a receptor that binds to colony-stimulating factor 3 (CSF3), a cytokine responsible for regulating the production, differentiation, and function of granulocytes. This interaction is essential for the survival and activation of neutrophils, key cells in the body’s innate immune defence. Alterations in CSF3R, such as mutations or overexpression, can disrupt granulocyte function and proliferation, contributing to conditions like chronic neutrophilic leukaemia and severe congenital neutropenias.

CSF3R

ARL4A (ADP-Ribosylation Factor-Like 4A) is a protein that belongs to the ADP-ribosylation factor (ARF) family of small GTPases. It plays a crucial role in regulating intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in processes such as membrane remodeling, vesicle formation, and membrane fusion inside cells.

ARL4A

ADAM15 (A Disintegrin and Metalloproteinase 15) is part of the ADAM protein family, which participates in cell adhesion, migration, and the breakdown of extracellular matrix proteins. ADAM15 plays key roles in cell signaling and tissue remodeling processes.

ADAM15

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a gene involved in the synthesis of glycosylphosphatidylinositol (GPI) anchors, which attach specific proteins to the cell membrane. These GPI-anchored proteins are crucial for functions such as cell adhesion, signal transmission, and immune system activity. Mutations in PIGN can impair GPI anchor formation, resulting in disorders characterised by developmental delays, neurological issues, and congenital abnormalities.

PIGN

BTBD7 (BTB Domain Containing 7) is a protein that plays a key role in regulating epithelial-mesenchymal transition (EMT), an essential process in embryonic development, tissue repair, and cancer metastasis. It aids in controlling cell shape and movement by affecting the cell’s cytoskeleton. Dysregulation of BTBD7 is linked to fibrosis and tumour progression, underscoring its importance in tissue remodelling and its potential as a therapeutic target in fibrotic conditions and metastatic cancer.

BTBD7

ANAPC4 (Anaphase Promoting Complex Subunit 4) is a protein that forms part of the anaphase-promoting complex/cyclosome (APC/C), a vital regulator of the cell cycle. It helps tag specific proteins for degradation, thereby controlling the timely progression of cells through different stages of division. Proper functioning of ANAPC4 is essential for normal regulation of the cell cycle, and its dysregulation may contribute to abnormalities associated with cancer development and progression.

ANAPC4

DBX1 (Developing Brain Homeobox 1) is a transcription factor that plays a crucial role in the development of the spinal cord and nervous system. It is vital for directing the differentiation of neural progenitor cells and ensuring the proper formation of neural structures during early development.

DBX1

The UNCX (Unc-4 Homeobox) gene encodes a transcription factor that contains a homeobox domain. It plays a crucial role in neuronal development by helping to define neuronal identity and guiding axon connections in the developing nervous system.

UNCX

BBX (Bobby Sox Homolog) is a transcriptional regulator that helps control cell proliferation and differentiation. It plays an important role in embryonic development and is involved in regulating circadian rhythms. Proper BBX function is essential for normal development and maintaining regular biological cycles.

SSBP3 (Single Stranded DNA Binding Protein 3) is a protein that specifically binds to single-stranded DNA. It plays a vital role in DNA repair and replication, helping to maintain genomic stability. By supporting the cell’s response to DNA damage, SSBP3 is essential for proper cellular function and has significant implications in cancer biology.

MXRA8

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