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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

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

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.

PAX5

COG1 (Component Of Oligomeric Golgi Complex 1): COG1 is a part of the COG complex, a vital component for normal Golgi function and protein trafficking within the cell. Proper functioning of COG1 is essential for glycoprotein processing, and mutations in COG1 can impair Golgi activity, leading to congenital disorders of glycosylation—a group of metabolic conditions that result in various developmental issues.

COG1

PRB2 (Proline-Rich Protein BstNI Subfamily 2): PRB2 is a protein involved in oral and salivary biology. It plays a key role in the formation of the dental pellicle and the defence of the oral mucosa. As part of the proline-rich protein family, PRB2 is important for maintaining oral health and protecting against dental caries and other oral diseases.

PRB2

FOXO3 (Forkhead Box O3): FOXO3 is a transcription factor that plays a key role in regulating genes involved in cell cycle arrest, DNA repair, and apoptosis. It is a significant factor in the study of longevity and age-related diseases, influencing pathways that impact the ageing process. In ageing research, FOXO3 is recognised as a central element, with scientists striving to understand its role in the complex mechanisms of life and ageing.

FOXO3

C-reactive protein (CRP) testing measures the level of CRP in the blood, a marker that indicates inflammation in the body. Raised CRP levels can signal acute inflammation, infections, or chronic conditions such as rheumatoid arthritis and heart disease. This test is commonly used to diagnose and monitor inflammatory conditions, detect flare-ups, and assess cardiovascular risk. Regular CRP testing helps guide treatment decisions and evaluate how effectively therapies are reducing inflammation.

NR3C2, also known as Nuclear Receptor Subfamily 3 Group C Member 2 or mineralocorticoid receptor (MR), is a nuclear receptor protein that plays a key role in regulating electrolyte balance and blood pressure. It acts as a ligand-activated transcription factor primarily found in the cytoplasm of target cells. Upon binding to mineralocorticoid hormones such as aldosterone, NR3C2 undergoes a conformational change and translocates into the nucleus to mediate its effects. Its main function includes regulating sodium and potassium ion transport in the kidney, colon, and salivary glands.

NR3C2

MECOM (MDS1 and EVI1 Complex Locus): MECOM is a transcriptional regulator involved in haematopoiesis and the development of certain cancers, particularly myeloid leukaemia. It encodes EVI1, a protein that plays a role in gene regulation, cell proliferation, and cell differentiation.

MECOM

IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a key role in activating the immune system by promoting the production of interferon-gamma (IFN-γ) and stimulating the activity of T cells and natural killer (NK) cells to fight infections and tumours.

IL12B

ESR1, also known as Estrogen Receptor Alpha, is a protein that belongs to the nuclear hormone receptor family and functions as a transcription factor. It plays a key role in mediating the effects of oestrogen, a steroid hormone, across various tissues in the body. ESR1 is essential for regulating gene expression in response to oestrogen binding. In the absence of oestrogen, ESR1 remains in the cytoplasm in an inactive state, bound to heat shock proteins. When oestrogen binds, ESR1 undergoes a conformational change, detaches from the heat shock proteins, and moves to the nucleus to influence gene transcription.

ESR1

ARRDC3 (Arrestin Domain Containing 3): ARRDC3 is a gene involved in the regulation of cell signalling pathways and has been studied for its potential role in tumour suppression. It participates in receptor internalisation and may influence cellular responses to external signals, including those involved in metabolic regulation.

ARRDC3

APCS (Amyloid P Component, Serum): APCS is a protein that plays a key role in the innate immune system, aiding the response to infection and injury. It binds to pathogens and damaged cells to support their removal and is also involved in amyloid plaque formation, linking it to diseases such as Alzheimer’s. Its roles in immune modulation and inflammation make it a focus of therapeutic research.

APCS

TUSC1 (Tumour Suppressor Candidate 1): TUSC1 is a gene believed to function as a tumour suppressor, playing a role in controlling cell growth and promoting apoptosis. Reduced expression of TUSC1 has been observed in various cancers, supporting its potential protective role against cancer development.

TUSC1

TFRC (Transferrin Receptor): TFRC is a measurement that reflects the activity of a key protein responsible for iron regulation in the body. TFRC facilitates the uptake of transferrin-bound iron into cells and is essential for the production of red blood cells. It is also widely used as a marker of cellular proliferation, with dysregulation associated with conditions such as anaemia and cancer.

TFRC

TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyses the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA. This activity plays a key role in active DNA demethylation, which is essential for regulating gene expression, guiding cellular differentiation, and maintaining genomic stability. Mutations in TET2 are frequently observed in haematological malignancies, including myelodysplastic syndromes and acute myeloid leukaemia, highlighting its role in epigenetic regulation and cancer development.

TET2

TMEM243 (Transmembrane Protein 243): TMEM243 is a gene that encodes a transmembrane protein whose function is not yet well understood. Like many proteins of this kind, it may have a role in cellular signalling or transport processes.

TMEM243

PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 is a gene that encodes a protein containing pleckstrin homology and RhoGEF domains. These domains indicate that the protein plays a role in signalling pathways involved in cell morphology, cytoskeletal organisation, and cellular migration. Although its precise functions are still being investigated, PLEKHG1 is thought to contribute to the regulation of cytoskeletal dynamics and cell motility.

PLEKHG1

NKX2-1, also known as thyroid transcription factor 1 (TTF-1), is a transcription factor that regulates gene expression by binding to specific DNA sequences. A member of the NKX family of homeodomain-containing proteins, it plays a key role in the development and function of the thyroid, lung, and brain. In the thyroid, NKX2-1 is expressed during embryonic development and is essential for the formation and differentiation of thyroid follicular cells.

NKX2-1

PTPN7 (Protein Tyrosine Phosphatase, Non-Receptor Type 7): PTPN7 is an enzyme involved in cell signalling, particularly within the immune system. It plays a key role in regulating T-cell activation and differentiation, thereby influencing immune responses. Dysregulation of PTPN7 can contribute to immune-related disorders and may have implications in autoimmune diseases and cancer due to its effects on cell signalling pathways.

PTPN7

TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme that catalyses the methylation of cytosine at position 38 in tRNA molecules. This modification, known as 5-methylcytosine (m5C), is important for tRNA stability, proper folding, and accurate codon recognition during protein synthesis. TRDMT1-mediated methylation supports key cellular processes such as gene expression regulation and stress responses. Dysregulation of TRDMT1 activity has been linked to diseases including cancer and neurodegenerative disorders.

TRDMT1

NFKBIE (NF-Kappa-B Inhibitor Epsilon): NFKBIE is a gene that encodes a key regulator of the NF-kappa-B pathway, which plays an important role in immune responses, inflammation, and cell survival. It functions by inhibiting NF-kappa-B activity, helping to control the expression of genes involved in immune and inflammatory processes. Dysregulation of NFKBIE has been associated with autoimmune diseases, chronic inflammation, and cancer, emphasising its role in immune regulation and disease development.

NFKBIE

LYRM7 (LYR Motif Containing 7): LYRM7 is a gene that encodes a protein involved in the assembly of mitochondrial complex I, a crucial component of the mitochondrial respiratory chain. This complex is vital for energy production via oxidative phosphorylation. Mutations or dysregulation of LYRM7 can lead to mitochondrial dysfunction, contributing to metabolic and neurodegenerative disorders. Its role in energy metabolism highlights its significance in sustaining cellular function and viability.

LYRM7

POGZ (Pogo Transposable Element Derived with ZNF Domain): POGZ is a protein containing zinc finger domains that plays a crucial role in chromatin remodelling and gene regulation. It is essential for shaping chromatin structure and controlling gene expression. Mutations in POGZ are linked to neurodevelopmental disorders, emphasising its importance in brain development and function.

POGZ

FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is a protein involved in the translation stage of protein synthesis, specifically responsible for attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations or dysregulation of FARSA can result in errors in protein synthesis, potentially causing various cellular dysfunctions and contributing to disease development.

FARSA

ADAL (Adenosine Deaminase-Like): ADAL (Adenosine Deaminase-Like) is a protein similar to adenosine deaminase (ADA) and is involved in purine metabolism. It plays a key role in the breakdown of adenosine, a molecule important for cellular energy transfer and signalling. ADAL’s activity in adenosine metabolism is essential for maintaining cellular energy balance and nucleotide homeostasis.

ADAL

LGR4 (Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 4): LGR4 is a G protein-coupled receptor that plays a key role in signalling pathways, including Wnt signalling. It is important for tissue development, maintenance, and homeostasis, and has been studied for its roles in stem cell biology and organ regeneration.

LGR4

Tex26 (Testis Expressed 26): Tex26 is a gene primarily expressed in the testis and is believed to play a role in testicular function and development. Although its specific functions are not yet fully understood, Tex26 is regarded as important in reproductive biology and may be significant in fertility-related research.

Tex26

MPHOSPH6 (M-Phase Phosphoprotein 6): MPHOSPH6 is a protein involved in regulating the cell cycle, particularly during mitosis. It plays a vital role in ensuring proper cell division and has been studied in the context of cancer, where disruptions in cell cycle control are a common feature.

MPHOSPH6

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 is a gene that encodes an enzyme involved in the production of ketone bodies — alternative energy sources produced during fasting or low-carbohydrate conditions. It plays a key role in energy metabolism and is primarily expressed in the liver.

HMGCS2

DRD5 (Dopamine Receptor D5): DRD5 is a gene that encodes a receptor similar to DRD1. It plays a role in cognitive and emotional processes and is involved in the brain’s response to neurotransmitters. DRD5 is also a target for certain pharmacological treatments of psychiatric and neurological disorders.

DRD5

PRR11 (Proline Rich 11): PRR11 is a gene that has been recently identified, with functions that are not yet fully understood. It is believed to play a role in cell cycle regulation and has been linked to cancer biology, particularly in processes such as cell proliferation and tumour growth.

PRR11

TEF (Thyrotrophic Embryonic Factor): TEF is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family. TEF plays a key role in regulating the circadian rhythm and controlling the expression of clock-dependent genes. It is essential for maintaining daily physiological cycles, including metabolism and hormone secretion. Dysregulation of TEF can affect circadian rhythm-related disorders and metabolic health, highlighting its importance in synchronising biological processes with the environmental light-dark cycle.

ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is a protein that reflects the body’s mechanisms for extracellular matrix stabilisation and inflammation regulation. It plays an important role in tissue remodelling and repair, and dysregulation of ITIH1 has been associated with various inflammatory conditions and may contribute to cancer development.

ITIH1

LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is a gene involved in neural development and synaptic function. It plays a key role in neuronal communication and is potentially linked to neurodegenerative diseases, making it important for understanding brain health and neurological disorders.

TRIM37

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