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

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

DNA Immunity & Inflammation Test

TRAF5 (TNF Receptor-Associated Factor 5): TRAF5 is a member of the TRAF protein family, which mediates signal transduction from various receptors, including TNF receptors and Toll-like receptors, playing a key role in immune and inflammatory responses. TRAF5 is involved in NF-kB activation, a pathway essential for immune regulation, cell survival, and differentiation. Dysregulation of TRAF5 can contribute to autoimmune diseases, making it a potential target for therapeutic intervention in immune disorders....

TRAF5

PHACTR2 (Phosphatase and Actin Regulator 2): PHACTR2 (Phosphatase and Actin Regulator 2) is a gene involved in regulating key cellular processes, including cell signalling and cytoskeletal dynamics. It encodes a protein that interacts with protein phosphatase 1 (PP1) and actin, playing a role in organising actin filaments and maintaining cell shape. PHACTR2 is involved in processes such as cell migration and may contribute to neuronal development.

PHACTR2

NR1H3: NR1H3 is a gene that encodes the liver X receptor alpha (LXRα), a nuclear receptor that regulates the expression of genes involved in cholesterol and lipid metabolism. It plays a key role in maintaining cholesterol balance and has been linked to the development of atherosclerosis and other metabolic disorders.

NR1H3

TPSB2 (Tryptase Beta 2): TPSB2 is a gene that encodes a protein belonging to the serine protease family, specifically a type of tryptase. This protein is primarily found in mast cells and plays a role in allergic responses, inflammation, and immune regulation. Elevated TPSB2 levels are associated with allergic reactions and certain mast cell-related disorders.

TPSB2

MON1B (Mon1 Homolog B): MON1B is a protein involved in intracellular trafficking and autophagy, two vital processes for maintaining cellular homeostasis and responding to stress. It plays a role in regulating vesicle transport and is linked to neurodegenerative diseases and metabolic disorders.

MON1B

PCDH15 (Protocadherin 15): PCDH15 is a gene that encodes a member of the protocadherin family, which plays a key role in cell-to-cell adhesion and neuronal connectivity. PCDH15 is essential for the proper functioning of sensory hair cells in the inner ear, and mutations in this gene are linked to hearing impairment and deafness.

PCDH15

KIF17 (Kinesin Family Member 17): KIF17 is a motor protein that transports cargo along microtubules, playing a vital role in intracellular transport, particularly in neurons. It is crucial for the anterograde movement of molecules such as NMDA receptors to synaptic sites, affecting synaptic plasticity and memory formation. Dysregulation of KIF17 has been linked to neurological disorders, underscoring its significance in neuronal function and health.

KIF17

EXOC5 (Exocyst Complex Component 5): EXOC5 is a gene that encodes a protein component of the exocyst, a complex involved in vesicle trafficking. It plays a key role in directing vesicles to specific sites on the plasma membrane, supporting processes such as cellular communication, secretion, and membrane growth.

EXOC5

ADRB3 (Adrenoceptor Beta 3): ADRB3 is a gene that encodes a beta-adrenergic receptor, primarily expressed in adipose tissue. It plays a key role in regulating lipolysis and thermogenesis, contributing to energy expenditure and body weight management. Variants of this gene have been studied for their potential influence on obesity and metabolic health.

ADRB3

NUAK1 (NUAK Family SnF1-Like Kinase 1): NUAK1 is a gene that encodes a protein kinase involved in regulating the cell cycle and energy metabolism. It plays a role in cell growth, migration, and survival, and ongoing research is exploring its potential impact on cancer progression and metabolic disorders.

NUAK1

NT5C2 (5'-Nucleotidase, Cytosolic II): NT5C2 is an enzyme that helps regulate nucleotide levels within cells, particularly in purine metabolism. It has been linked to chemotherapy resistance in certain leukaemias and may contribute to purine metabolism disorders.

NT5C2

KIF2B (Kinesin Family Member 2B): KIF2B is a protein that plays a crucial role in microtubule dynamics, which are essential for accurate chromosome segregation during cell division. As a member of the kinesin motor protein family, KIF2B is important for intracellular transport and cell movement. Dysfunction of KIF2B can result in mitotic errors and may have potential implications in cancer.

KIF2B

TCB2N (Testis and Ciliary Pathway 2 Neighbour): TCB2N is a gene that is potentially involved in testicular function and ciliary processes. Its name suggests a role in spermatogenesis or ciliary movement. While its exact functions are not fully understood, ongoing research aims to clarify its contributions to human physiology.

TCB2N

NPC1 (Niemann-Pick Disease, Type C1): NPC1 is a gene that plays a crucial role in the transport of cholesterol within cells. Mutations in NPC1 cause Niemann-Pick disease type C, a rare genetic condition characterised by the accumulation of cholesterol and other lipids in cells, leading to neurodegeneration and liver dysfunction.

NPC1

RNF144B (Ring Finger Protein 144B): RNF144B is a gene that encodes a protein belonging to the RING finger family, which is involved in regulating protein degradation and cellular signalling. Its RING domain provides E3 ubiquitin ligase activity, allowing it to tag proteins for degradation through the ubiquitin-proteasome system. RNF144B plays a key role in maintaining protein balance and proper cellular function.

RNF144B

SUGCT (Succinyl-CoA:Glutarate-CoA Transferase): SUGCT is an enzyme that plays a key role in the metabolism of glutarate, contributing to the tricarboxylic acid (TCA) cycle. It is essential for energy production and amino acid metabolism. Dysfunction in SUGCT can result in glutaric aciduria type III, a metabolic disorder that affects energy production.

SUGCT

ENPP4 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 4): ENPP4 is a gene that encodes an enzyme from the ENPP family, involved in purinergic signalling and phosphate balance. ENPP4 acts as both a phosphodiesterase, breaking down phosphodiester bonds, and a pyrophosphatase, cleaving pyrophosphate bonds. It is primarily expressed in the kidney, liver, and brain, where it contributes to processes such as bone mineralisation, lipid metabolism, and regulation of extracellular nucleotides. ENPP4 may also influence immune responses and inflammation through purinergic receptor interactions.

ENPP4

rs6553050: rs6553050 is a genetic marker known as a single nucleotide polymorphism (SNP) found in the human genome. It is studied to identify variations that may be linked to specific traits or health conditions. Although its precise effects are still under investigation, rs6553050 may affect genetic predispositions and responses to medication.

rs6553050

MN1 (Meningioma 1): MN1 is a gene linked to the development of meningiomas, a type of brain tumour. It is thought to play a role in regulating gene expression and cellular growth. Alterations in MN1 have also been associated with other forms of cancer.

LRRC7 (Leucine Rich Repeat Containing 7): LRRC7 is a gene that encodes a protein involved in synaptic functions in the brain. It is particularly associated with dendritic spines, which are essential for synaptic transmission and plasticity. Alterations in LRRC7 have been linked to neurological conditions, emphasising its role in brain development and function.

LRRC7

SHROOM3 (Shroom Family Member 3): SHROOM3 is a gene that encodes a protein involved in regulating cell morphology and architecture. It plays a key role in actin cytoskeleton dynamics, influencing cell shape, migration, and polarity. Dysregulation of SHROOM3 has been associated with kidney disease, fibrosis, and cancer progression, highlighting its importance in both development and disease.

SHROOM3

IL33 (Interleukin 33): IL33 is a cytokine belonging to the IL-1 family, acting as an alarm signal when released by cells under stress or injury. It binds to the ST2 receptor, initiating inflammatory responses, and plays a crucial role in conditions such as allergies, asthma, and other inflammatory diseases. Research on IL33 investigates its dual function in promoting inflammation and offering protection, with potential implications for therapies targeting chronic inflammation and immune dysregulation.

IL33

PKD2L2 is a gene that encodes a protein belonging to the polycystin family, associated with calcium channel activity and cellular signalling. While its exact role in kidney function or disease is not fully understood, PKD2L2 may influence calcium homeostasis and broader cellular signalling processes.

PKD2L2

ZFP64 (ZFP64 Zinc Finger Protein): ZFP64 is a zinc finger protein involved in gene regulation. Zinc finger proteins can bind to specific DNA sequences and influence gene expression. The specific targets and functions of ZFP64 in cellular processes are still under investigation.

ZFP64

RRAGC (Ras Related GTP Binding C): RRAGC is a member of the small GTPase family and plays a key role in amino acid sensing and mTOR signalling. This gene is important for regulating cellular growth, proliferation, and metabolism. Dysregulation of RRAGC can affect cellular energy balance and has been associated with metabolic disorders.

RRAGC

SEPHS1 (Selenophosphate Synthetase 1) SEPHS1 is a gene that encodes an enzyme essential for the biosynthesis of selenoproteins, which contain the amino acid selenocysteine. Predominantly located in the cytoplasm, SEPHS1 plays a key role in selenium metabolism by producing selenophosphate, the activated form of selenium required for selenocysteine incorporation into proteins. Through this activity, SEPHS1 supports the proper synthesis of selenoproteins, which are important for various cellular processes and overall cellular health.

SEPHS1

IL23R (Interleukin 23 Receptor): IL23R is a gene that encodes the receptor for interleukin-23 (IL-23), a cytokine involved in immune regulation. The IL23R receptor is primarily present on immune cells, where its activation is crucial for the differentiation and function of T helper 17 (Th17) cells, which contribute to inflammatory responses and the development of autoimmune diseases.

IL23R

TFPI2 (Tissue Factor Pathway Inhibitor 2): TFPI2 is a measure that reflects the activity of a key regulator in the coagulation system. TFPI2 acts as a potent inhibitor of the tissue factor (TF)-mediated blood coagulation pathway, helping to maintain haemostatic balance by preventing excessive clotting and modulating fibrinolysis. Found in the extracellular matrix (ECM), TFPI2 also contributes to cell migration, proliferation, and angiogenesis, supporting tissue repair and remodelling. Abnormal TFPI2 expression has been linked to various pathological conditions, including cancer, where it may function as a tumour suppressor.

TFPI2

HNRNPUL1 (Heterogeneous Nuclear Ribonucleoprotein U Like 1): HNRNPUL1 is a protein that exemplifies the function of the hnRNP family within the body. HNRNPUL1 participates in RNA processing and splicing, playing a key role in regulating gene expression through pre-mRNA splicing and post-transcriptional modifications.

HNRNPUL1

DPY19L3 (Dpy-19 Like 3): DPY19L3 is a member of the DPY19 family, a group of proteins potentially involved in transmembrane transport or protein trafficking. While its precise functions and impact on human health are not yet fully understood, it may play important roles in cellular processes.

DPY19L3

NRP2 (Neuropilin 2): NRP2 is a receptor that plays a key role in angiogenesis and lymphangiogenesis, as well as in neuronal guidance. It interacts with vascular endothelial growth factors and semaphorins, influencing the development of blood vessels and nerves. NRP2 is also involved in cancer progression, particularly in tumour angiogenesis and metastasis, and has important roles in developmental processes.

NRP2

SYCP2L (Synaptonemal Complex Protein 2-Like): SYCP2L is a protein involved in meiosis, playing a key role in the formation of the synaptonemal complex. This structure is essential for the pairing and recombination of homologous chromosomes. SYCP2L is important for understanding the mechanisms of genetic recombination and fertility, with potential implications in reproductive biology and related disorders.

SYCP2L

SEMA4B (Semaphorin 4B): SEMA4B is a gene that encodes an enzyme essential for the biosynthesis of selenoproteins, which contain the amino acid selenocysteine. Predominantly located in the cytoplasm, SEPHS1 plays a key role in selenium metabolism by producing selenophosphate, the activated form of selenium required for selenocysteine incorporation into proteins. Through this activity, SEPHS1 supports the proper synthesis of selenoproteins, which are important for various cellular processes and overall cellular health.

SEMA4B

DPYSL5 (Dihydropyrimidinase Like 5): DPYSL5 is a member of a protein family involved in neurodevelopment, particularly in axonal growth and guidance. It plays a role in neuronal repair and has been studied for its relevance in neurodegenerative diseases.

DPYSL5

CDC5L (Cell Division Cycle 5-Like): CDC5L plays a vital role in regulating cell cycle progression and pre-mRNA splicing. It is part of a complex involved in maintaining genomic stability and ensuring correct chromosome segregation during cell division. Mutations or alterations in CDC5L expression can disrupt cell cycle control, leading to cellular abnormalities and potentially contributing to cancer development. Research on CDC5L concentrates on understanding its role in cell cycle regulation and its implications for cancer therapy.

CDC5L

AQP10 (Aquaporin 10): AQP10 is a member of the aquaporin family of water channels, involved in the transport of water and small solutes across cell membranes. It is primarily expressed in the intestine and contributes to water absorption and gastrointestinal function. While its precise physiological roles are still being studied, AQP10 likely helps maintain water and electrolyte balance, with potential relevance to gastrointestinal health and disorders.

AQP10

CDH12 (Cadherin 12): CDH12 is a member of the cadherin superfamily, proteins that facilitate cell-to-cell adhesion. It is predominantly expressed in the nervous system and plays a crucial role in neural development and connectivity. Alterations in CDH12 have been associated with neurodevelopmental disorders due to its impact on brain structure and function.

CDH12

NRSN1 (Neurensin 1): NRSN1 is a neuronal protein that may have a role in synaptic function and plasticity. Although its exact function in the brain is not fully understood, it is thought to be involved in the regulation of neurotransmitter release and neuronal signalling, with potential implications for learning and memory.

NRSN1

FANCC (Fanconi Anaemia Complementation Group C): FANCC is a gene that encodes a protein involved in the Fanconi anaemia (FA) pathway, which is essential for DNA repair and maintaining genomic stability. Mutations in FANCC can result in Fanconi anaemia, a rare genetic disorder associated with bone marrow failure, congenital anomalies, and an increased risk of cancer.

FANCC

RBFOX1 (RNA Binding Fox-1 Homolog 1): RBFOX1 is an RNA-binding protein that plays a crucial role in regulating alternative splicing. It affects the diversity and function of mRNA transcripts in the nervous system and skeletal muscle. By targeting a wide range of pre-mRNAs, RBFOX1 modulates splicing patterns to control gene expression vital for neuronal development, synaptic function, and muscle cell differentiation. Proper RBFOX1 activity is essential for the development of the central nervous system, and its dysregulation has been associated with neurological disorders such as epilepsy and autism spectrum disorders.

RBFOX1

IL17RA (Interleukin 17 Receptor A): IL17RA is part of the receptor complex for interleukin 17 (IL-17), a cytokine that plays a crucial role in regulating inflammatory and immune responses. IL17RA signalling is essential for defence against extracellular pathogens and is involved in the development of several autoimmune and inflammatory diseases, including psoriasis, rheumatoid arthritis, and ankylosing spondylitis. Targeting IL17RA and the IL-17 pathway is a significant focus of ongoing therapeutic research for these conditions.

IL17RA

MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1): MAP3K1 is a crucial component of the MAPK signalling pathway, which regulates vital cellular processes such as proliferation, differentiation, and stress response. Mutations in MAP3K1 can contribute to developmental disorders and are linked to various types of cancer.

MAP3K1

KLRK1 (Killer Cell Lectin Like Receptor K1): KLRK1 is a gene that encodes an activating receptor found on natural killer (NK) cells and certain T cells. It plays a crucial role in immune surveillance by recognising stress-induced ligands on target cells, which leads to the elimination of infected or transformed cells. KLRK1 is vital for the body’s defence against viral infections and specific cancers.

KLRK1

KIF1A (Kinesin Family Member 1A): KIF1A is a neuron-specific motor protein essential for axonal transport, a process critical for proper neuron function and survival. KIF1A plays a key role in neural development and maintenance, and mutations in this protein are linked to neurodegenerative diseases and developmental neurological disorders.

KIF1A

MAP4K5 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5): MAP4K5 is a gene that encodes a protein involved in the MAP kinase signalling cascade, transmitting signals from the cell surface to the nucleus. It influences cellular responses such as inflammation, stress reactions, and immune regulation, and may play a role in autoimmune disease processes.

MAP4K5

CD36 (Cluster of Differentiation 36): CD36 is a multifunctional protein that serves as a receptor for various ligands, including oxidised LDL, fatty acids, and phospholipids. It plays crucial roles in fatty acid metabolism, inflammation, and atherogenesis. CD36’s role in lipid metabolism and its contribution to cardiovascular diseases and metabolic syndrome make it a significant focus of medical research.

CD36

RAD52 (RAD52 Homologue, DNA Repair Protein): RAD52 is a gene that encodes a protein essential for repairing DNA double-strand breaks, helping maintain genomic stability. It is particularly involved in the homologous recombination repair pathway, which ensures accurate DNA repair during cell division. Defects in RAD52 can contribute to genomic instability, increasing the risk of cancer and certain inherited disorders.

RAD52

TRPS1 (Tricho-Rhino-Phalangeal Syndrome Type I): TRPS1 is a transcription factor that plays a crucial role in regulating the growth and development of bone, hair, and connective tissue. Mutations in TRPS1 cause Tricho-Rhino-Phalangeal Syndrome, which is marked by craniofacial and skeletal abnormalities. Understanding the function of TRPS1 is essential for diagnosing and managing this syndrome, with ongoing research centred on its role in tissue development and differentiation.

TRPS1

MCFD2 (Multiple Coagulation Factor Deficiency 2): MCFD2 is a gene that encodes a protein vital for the transport and correct folding of coagulation factors V and VIII, which are essential for blood clotting. Mutations in MCFD2 can cause combined factor V and VIII deficiency, a rare bleeding disorder, emphasising its crucial role in haemostasis and the effect of impaired protein transport on blood clotting.

MCFD2

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

HNF4A

OAT (Ornithine Aminotransferase): OAT is a gene that encodes the ornithine aminotransferase enzyme, which plays a crucial role in the urea cycle. This enzyme catalyses the conversion of ornithine to citrulline, assisting the body in detoxifying ammonia. Mutations in OAT can disrupt this process, resulting in hyperammonaemia — a condition characterised by elevated blood ammonia levels that can impact neurological function.

ERMP1 (Endoplasmic Reticulum Metallo Protease 1): ERMP1 is a gene that encodes a protein involved in the processing and maturation of proteins within the endoplasmic reticulum (ER). It helps maintain protein homeostasis by degrading misfolded or unassembled proteins, supporting proper ER function. ERMP1 plays a role in cellular processes such as immune response and ER-associated degradation (ERAD), and its dysregulation can contribute to diseases like neurodegeneration and cancer.

ERMP1

TMEM116 (Transmembrane Protein 116): TMEM116 is a gene that encodes a transmembrane protein involved in various cellular processes. Although its specific function remains under investigation, TMEM116 is believed to play a role in cellular transport and signalling pathways, including membrane dynamics, vesicle trafficking, and ion channel regulation. Emerging research indicates it may contribute to cellular homeostasis and intracellular communication, and dysregulation of TMEM116 could affect several physiological processes.

TMEM116

CDH19 (Cadherin 19): CDH19 is a member of the cadherin family, which are essential molecules for cell-to-cell adhesion and tissue integrity. CDH19 plays a particularly important role in the nervous system, supporting neuron-to-neuron interactions and contributing to neural development. It has also been studied in connection with neurodevelopmental disorders, including autism spectrum disorders.

CDH19

RPA2 (Replication Protein A2): RPA2 is a subunit of the Replication Protein A (RPA) complex and plays a key role in DNA replication, repair, and recombination. RPA2 helps stabilise and protect single-stranded DNA (ssDNA) during replication, preventing degradation and supporting the recruitment of other DNA repair proteins. Through these actions, it ensures proper DNA damage response and contributes to genomic stability. Additionally, RPA2 is involved in other cellular processes, including telomere maintenance and DNA damage checkpoints.

RPA2

RREB1 (Ras Responsive Element Binding Protein 1): RREB1 is a gene that encodes a transcription factor which binds to the Ras-responsive element (RRE). It is involved in regulating gene expression in response to Ras signalling and plays a role in cell growth and proliferation.

RREB1

MFF (Mitochondrial Fission Factor): MFF is a protein that plays a key role in mitochondrial dynamics, particularly in the process of mitochondrial fission. By recruiting dynamin-related protein 1 (Drp1) to the mitochondrial outer membrane, MFF facilitates the division of mitochondria, which is essential for proper mitochondrial distribution, quality control, and energy metabolism. This process supports cell health, growth, and adaptation to metabolic demands. Dysregulation of MFF can disrupt mitochondrial shape and function, affecting cellular energy balance and contributing to disease.

GALNT3 (Polypeptide N-Acetylgalactosaminyltransferase 3): GALNT3 is a gene that encodes a protein involved in O-linked glycosylation, which adds N-acetylgalactosamine to proteins. This modification is crucial for proper protein function and cell signalling. Mutations in GALNT3 can disrupt calcium and phosphate balance, resulting in disorders such as familial tumoral calcinosis.

GALNT3

STXBP5 (Syntaxin Binding Protein 5): STXBP5 is a protein that plays a crucial role in regulating neurotransmitter release at synapses. It interacts with components of the SNARE complex, supporting vesicle trafficking and exocytosis. STXBP5 is essential for proper synaptic function and has been associated with neurological disorders.

STXBP5

MYH15 (Myosin Heavy Chain 15): MYH15 is a gene that encodes a myosin heavy chain protein, primarily expressed in skeletal muscle. Myosins are motor proteins essential for muscle contraction and cellular movement. Although the specific functions of MYH15 are still being researched, it may play a role in muscle development and overall muscle function.

MYH15

HSD17B13, also known as Hydroxysteroid 17-beta dehydrogenase 13, is an enzyme mainly found in the liver and involved in the metabolism of steroid hormones and fatty acids. It belongs to the hydroxysteroid (17-beta) dehydrogenase (HSD17B) family, which catalyses the conversion of hydroxysteroids to ketosteroids and vice versa. HSD17B13 plays a crucial role in fatty acid metabolism, particularly in the oxidation of long-chain fatty acids, and is localised to the peroxisomes — cellular organelles responsible for fatty acid processing. Its enzymatic activity is essential for converting long-chain fatty acyl-CoAs into 3-ketoacyl-CoAs, supporting proper liver function and lipid metabolism.

HSD17B13

MCPH1 (Microcephalin 1): MCPH1 is a gene that plays a crucial role in brain development, particularly in regulating brain size. It is involved in the DNA damage response and cell cycle control. Mutations in MCPH1 can result in microcephaly, emphasising its significant role in neurodevelopment.

MCPH1

CNTNAP2, also known as Contactin Associated Protein-Like 2, is a cell adhesion molecule that belongs to the neurexin superfamily. It plays a crucial role in the development and function of the nervous system, particularly in neuronal migration, axon guidance, synapse formation, and signal transmission. CNTNAP2 is predominantly expressed in the developing nervous system, where it interacts with other cell adhesion molecules, extracellular matrix proteins, and signalling molecules to regulate proper neuronal positioning and axonal pathfinding. Dysregulation of CNTNAP2 expression or function can affect brain development and neural connectivity.

CNTNAP2

LRRC42 (Leucine-rich repeat-containing protein 42): LRRC42 is a gene that encodes a protein belonging to the leucine-rich repeat (LRR) family, characterised by repeating sequences rich in leucine residues. Predominantly located in the cytoplasm or on the cell membrane, LRRC42 is involved in cellular processes such as signal transduction, protein-protein interactions, and cell adhesion. Its LRR domains serve as interaction interfaces, enabling LRRC42 to bind specific partner proteins and participate in diverse cellular pathways.

LRRC42

KIAA1109: KIAA1109 is a gene linked to a variety of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. Although its precise function is not fully known, it is believed to play a crucial role in immune regulation and the body’s inflammatory responses. Researching KIAA1109 is vital for understanding the genetic foundations of autoimmune disorders and for informing the development of targeted treatments.

KIAA1109

UBLCP1 (Ubiquitin Like Domain Containing CTD Phosphatase 1): UBLCP1 is a protein that indicates the activity of a phosphatase involved in regulating RNA polymerase II, a key enzyme in transcription. UBLCP1 plays a vital role in dephosphorylating the C-terminal domain of RNA polymerase II, affecting gene expression and influencing various cellular processes and disease mechanisms.

UBLCP1

POC1B (POC1 Centriolar Protein B): POC1B is a protein that plays a key role in the structure and function of centrioles, essential cellular components. Centrioles are critical for cell division, organisation of the microtubule cytoskeleton, and the formation of cilia and flagella. POC1B contributes to centriole assembly and maintenance, supporting accurate chromosome segregation and proper cell cycle progression. It also plays a vital role in ciliogenesis, which is important for processes such as fluid movement in the respiratory tract, sperm motility, and sensory signal transduction.

POC1B

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

PPARG

KCNJ3 (Potassium Voltage-Gated Channel Subfamily J Member 3): KCNJ3, also known as GIRK1 (G protein-activated inwardly rectifying potassium channel 1), is a gene that encodes a protein involved in regulating neuronal excitability and heart rate. By controlling potassium ion flow, KCNJ3 helps stabilise the resting membrane potential and modulate action potentials in neurones and cardiac muscle cells. Dysregulation of KCNJ3 may contribute to neurological disorders, such as epilepsy and mood disorders, as well as cardiovascular diseases.

KCNJ3

KRT72 (Keratin 72): KRT72 is a gene that encodes a type II keratin, a crucial component of the cytoskeletal structure in epithelial cells. It plays a vital role in maintaining the structural integrity and proper function of hair follicles. Mutations in KRT72 are frequently associated with hair disorders, emphasising its essential role in hair formation and maintenance.

KRT72

ASB13 is a member of the ASB protein family, characterised by ankyrin repeat domains and a SOCS box domain. It plays a key role in the regulation of protein degradation and signal transduction. As an E3 ubiquitin ligase, ASB13 facilitates the tagging and degradation of specific protein targets. Its SOCS box domain interacts with components of the ubiquitin-proteasome system, including E2 enzymes and Cullin-RING ligase complexes, to control targeted protein turnover.

ASB13

SERPINE2 (Serpin Family E Member 2): SERPINE2 is a serine protease inhibitor, also known as protease nexin-1, which plays a key role in regulating proteolytic pathways in the body. It is involved in tissue remodelling, fibrinolysis, and neuronal growth, and helps inhibit enzymes such as thrombin and urokinase-type plasminogen activator, which are important for blood clotting and tissue repair. Dysregulation of SERPINE2 has been linked to cardiovascular and neurological disorders, emphasising its importance in maintaining tissue integrity and function.

SERPINE2

SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha): SCNN1A is a gene that encodes the alpha subunit of the epithelial sodium channel (ENaC), which regulates sodium balance and fluid homeostasis in tissues such as the lungs, kidneys, and colon. This subunit is essential for ENaC’s assembly, localisation, and function, enabling sodium absorption that supports blood pressure, fluid volume, and electrolyte balance. Mutations in SCNN1A can alter channel activity and are linked to conditions such as pseudohypoaldosteronism type 1 (PHA1), a disorder affecting salt regulation.

SCNN1A

MYC (MYC Proto-Oncogene, BHLH Transcription Factor): MYC is a well-known oncogene that plays a central role in cell cycle regulation, apoptosis, and cellular transformation. As a transcription factor, it controls the expression of numerous genes involved in key cellular processes. Overexpression of MYC is common in many cancers, making it a major focus of oncology research. Understanding MYC regulation and its pathways is critical for developing targeted cancer therapies, as its dysregulation contributes to tumour growth, progression, and treatment resistance.

NTM (Neurotrimin): NTM is a neural cell adhesion molecule involved in the formation of neural networks. It plays a key role in neural development, particularly in neurite outgrowth and synaptic plasticity. Research into NTM helps to better understand neural development mechanisms and its potential links to neurodevelopmental disorders.

SOS2 (Son of Sevenless Homolog 2): SOS2 is a protein involved in cell signalling and the activation of the Ras/MAPK pathway. It plays a key role as a mediator in cellular responses to growth factors, cytokines, and extracellular signals, contributing to diverse physiological processes and cellular functions.

SOS2

CDK17 (Cyclin-dependent kinase 17): CDK17 is a nuclear enzyme belonging to the cyclin-dependent kinase family, which is essential for cell cycle regulation, transcriptional control, and cellular differentiation. Acting as a serine/threonine protein kinase, CDK17 phosphorylates target proteins to modulate their activity. It plays a key role in driving cell cycle progression, particularly in promoting the transition from the G1 phase to the S phase, where DNA replication occurs.

CDK17

JUP (Junction Plakoglobin): JUP is a gene that encodes plakoglobin, a protein found in cell-cell junctions, including desmosomes and adherens junctions. Plakoglobin plays a key role in maintaining the structural integrity of tissues, especially in the skin and heart.

SOX2, short for SRY (Sex Determining Region Y)-Box 2, is a key transcription factor involved in embryonic development, stem cell pluripotency, and tissue homeostasis. Located mainly in the cell nucleus, SOX2 regulates gene expression by binding to specific DNA sequences and controlling target gene activity. It plays a major role in maintaining stem cell pluripotency and self-renewal, working alongside other transcription factors like OCT4 and NANOG to form a core network that preserves the undifferentiated state of embryonic stem cells.

SOX2

PROX1 (Prospero Homeobox 1): PROX1 is a transcription factor that regulates gene expression and is involved in key developmental processes. It plays a central role in lymphatic vessel formation, liver development, and cell fate determination. In the lymphatic system, PROX1 acts as a master regulator of lymphatic endothelial cell differentiation and maintenance.

PROX1

LARP4B (La-Related Protein 4B): LARP4B is a member of the La-related protein (LARP) family, which is involved in regulating RNA stability and translation. Although the specific functions of LARP4B are still under investigation, LARPs generally contribute to post-transcriptional gene regulation by influencing mRNA stability, translation, and cell growth. Understanding LARP4B may offer valuable insights into gene expression control and its connections to diseases associated with RNA dysregulation.

LARP4B

PDZD2 (PDZ Domain Containing 2): PDZD2 is a multi-PDZ domain protein that aids in organising protein complexes at the cell membrane, supporting signal transduction and cellular communication. It is involved in various cellular functions, including synaptic signalling in neurones, and its dysregulation may be linked to neurological disorders.

PDZD2

FAM53A (Family With Sequence Similarity 53 Member A): FAM53A is involved in the regulation of cell proliferation and may have a role in cell development and differentiation. Although its function has been less extensively studied, it appears to be essential for normal cellular functions and potentially for maintaining cell integrity. Ongoing research seeks to clarify its exact roles and how disruptions in its regulation might affect disease processes, such as cancer and developmental disorders.

FAM53A

KAT2B (Lysine Acetyltransferase 2B): KAT2B, also known as PCAF, encodes an enzyme involved in histone acetylation, a process essential for regulating gene expression. It contributes to DNA repair, cell cycle control, and apoptosis, and plays a key role in transcription regulation and chromatin remodelling. KAT2B has been linked to cancer development and certain developmental disorders.

KAT2B

MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A is a protein belonging to a family characterised by maestro heat-like repeats, which are believed to be involved in lipid metabolic processes. Although its exact functions remain unclear, MROH2A may play a role in cellular lipid metabolism and could have implications for metabolic disorders. Investigating its role may offer insights into metabolic regulation and lipid-related disease mechanisms.

MROH2A

MAP7 (Microtubule-Associated Protein 7): MAP7 is a protein involved in stabilising microtubules and interacting with motor proteins. It influences cell movement and organisation and plays a role in processes such as mitosis and intracellular transport. MAP7 is important for maintaining cellular structure and dynamics.

MAP7

RSU1 (Ras Suppressor Protein 1): RSU1 is a protein that interacts with key signalling molecules, including Ras. It plays an important role in regulating cell adhesion and motility, contributing to various cell signalling pathways. RSU1 may also have implications in cancer progression and metastasis.

RSU1

XYLT1 (Xylosyltransferase 1): XYLT1 is an enzyme involved in the biosynthesis of proteoglycans, essential components of the extracellular matrix. It catalyses the addition of xylose to specific serine residues, a crucial step in forming connective tissues. Mutations in XYLT1 can cause skeletal and connective tissue disorders, highlighting its significance in tissue development and maintenance.

XYLT1

GJA10 (Gap Junction Protein Alpha 10): GJA10 is a gene that encodes a connexin protein forming gap junction channels for the direct exchange of ions and small molecules between cells. This communication supports tissue homeostasis and coordinated cell activity. In the eye, GJA10 helps maintain lens transparency and function, and mutations have been associated with cataracts and other vision disorders.

GJA10

CCR3 (C-C Motif Chemokine Receptor 3): CCR3 is a receptor involved in the recruitment and activation of eosinophils, basophils, and T cells, playing a key role in inflammatory responses and the pathology of allergic diseases. It acts as a primary receptor for eotaxin, a chemokine that drives eosinophilic inflammation seen in conditions such as asthma and allergic rhinitis. Dysregulation of CCR3 signalling can exacerbate allergic and inflammatory conditions, making it a potential target for therapeutic intervention.

CCR3

SETD7 (SET Domain Containing 7, Lysine Methyltransferase): SETD7 is a gene involved in epigenetic regulation, encoding an enzyme that methylates histone proteins. This modification plays a vital role in controlling gene expression. Dysregulation of SETD7 activity has been associated with various diseases, including cancer and cardiovascular disorders.

SETD7

MAF (MAF BZIP Transcription Factor): MAF is a gene that encodes a transcription factor involved in the development and differentiation of various tissues, including the eye lens and pancreatic beta cells. It regulates gene expression and influences cell fate decisions. Mutations in MAF have been associated with developmental disorders and certain diseases.

BORCS7 (BLOC-1 Related Complex Subunit 7): BORCS7 is a component of BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). It plays a crucial role in the formation of lysosome-related organelles, such as melanosomes in melanocytes. Dysfunction in BORCS7 may impact pigmentation and neurological functions.

BORCS7

LRRC6 (Leucine-Rich Repeat-Containing Protein 6): LRRC6 is a gene that encodes a protein involved in the structure of cilia within cells. Cilia play a crucial role in cellular movement and signalling. Mutations in LRRC6 can cause ciliopathies, a group of genetic disorders characterised by ciliary dysfunction and a range of clinical symptoms.

LRRC6

ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene that encodes a transcription factor from the ETS family. Transcription factors such as ETS2 regulate the expression of specific target genes by binding to particular DNA sequences. ETS2 plays important roles in cellular processes such as cell proliferation, differentiation, and development. Dysregulation of ETS2 has been linked to cancer and developmental disorders.

ETS2

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 is a gene that encodes a protein associated with the nuclear envelope, playing a role in the structure and organisation of the nucleus. Mutations in LEMD3 have been linked to Buschke-Ollendorff syndrome, a rare genetic disorder affecting bone and skin.

LEMD3

SH2B3 (SH2B Adaptor Protein 3): SH2B3 (SH2B Adaptor Protein 3) is an adaptor protein that negatively regulates cytokine signalling in haematopoietic cells. It plays a key role in maintaining haematopoietic stem cell homeostasis and controlling immune responses. Mutations in SH2B3 are linked to various haematological disorders, including myeloproliferative neoplasms and autoimmune diseases, highlighting its importance in blood cell development and immune regulation.

SH2B3

FGFR2 (Fibroblast Growth Factor Receptor 2): FGFR2 is a receptor that binds fibroblast growth factors and plays a key role in cell growth, differentiation, and tissue repair. It is essential for normal development, and mutations in FGFR2 are linked to several developmental disorders such as craniosynostosis and skeletal dysplasia, as well as being implicated in certain cancers.

FGFR2

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme that plays a key role in the initiation of translation, the vital process of protein synthesis. As a member of the DEAD-box RNA helicase family, EIF4A1 is responsible for unwinding secondary structures in mRNA, enabling ribosomes to access the initiation codon and commence protein production. It functions as part of the eukaryotic translation initiation complex, working alongside other initiation factors to bind and scan the 5' untranslated region (UTR) of mRNA.

EIF4A1

PAX5, also known as Paired Box 5, is a transcription factor that plays a crucial role in B-cell development and differentiation. It is part of the PAX family of transcription factors, characterised by a conserved paired box domain involved in DNA binding and protein interactions. PAX5 is essential for determining B-cell lineage commitment during haematopoiesis and is expressed in progenitor cells destined to become B cells, supporting their development from haematopoietic stem cells.

TBKBP1

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