RADX (RADX DNA Repair Helicase): RADX is a protein that plays a crucial role in DNA repair, particularly in maintaining genomic stability during DNA replication. It is involved in the cellular response to DNA damage and helps prevent genomic instability — a major factor in the development of cancer. RADX is a key focus in understanding DNA repair mechanisms and advancing cancer research.
PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2): PAPSS2 is a gene that encodes an enzyme essential for the production of PAPS (3'-phosphoadenosine 5'-phosphosulfate), a key sulphate donor in various sulphation reactions. It plays an important role in the metabolism of hormones, medications, and other molecules. Mutations in PAPSS2 can affect skeletal development and lead to disorders such as spondyloepimetaphyseal dysplasia.
LCT (Lactase): LCT is a gene that encodes the enzyme lactase, which is essential for digesting lactose in milk. Variants in this gene can affect the body’s ability to break down lactose, potentially leading to lactose intolerance and related gastrointestinal symptoms.
KCNIP4, also known as Kv channel-interacting protein 4, is part of the Kv channel-interacting protein (KCNIP) family, also referred to as Kv channel regulatory proteins (KCHIPs). These proteins associate with voltage-gated potassium (Kv) channels and play a crucial role in modulating their function. KCNIP4 primarily regulates the properties of Kv channels, which are integral membrane proteins essential for controlling cellular electrical activity by managing the flow of potassium ions across membranes. Through its interaction with Kv channels, KCNIP4 influences their gating kinetics, voltage sensitivity, and membrane trafficking.
LYZ (Lysozyme): Lysozyme (LYZ) is an enzyme that plays a crucial role in the innate immune system by breaking down the peptidoglycan layer of bacterial cell walls, resulting in bacterial lysis. It is plentiful in various secretions, including saliva, tears, and milk, as well as in neutrophil granules. In addition to its antibacterial properties, LYZ also contributes to the modulation of inflammation and holds potential therapeutic uses in the treatment of infections and inflammatory conditions.
LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule predominantly expressed in the limbic system of the brain. It plays a crucial role in synaptic plasticity and is involved in neural development and function. LSAMP has been studied in connection with neuropsychiatric disorders and may have implications for conditions such as schizophrenia.
TP53 (Tumour Protein P53): TP53 is a gene that encodes the p53 protein, a key tumour suppressor involved in preventing the development of cancer. The p53 protein plays a central role in regulating cell cycle arrest, DNA repair, and apoptosis in response to DNA damage. Mutations in TP53 are linked to many types of cancer, emphasising its importance in cancer research and treatment.
UBQLN2, also known as Ubiquilin-2, is a protein involved in the ubiquitin–proteasome system (UPS), a crucial pathway for protein degradation in cells. It contains ubiquitin-like (UBL) and ubiquitin-associated (UBA) domains that facilitate interactions with ubiquitinated proteins and proteasome components. UBQLN2 acts as a shuttle factor, delivering ubiquitinated proteins to the proteasome for degradation and supporting protein quality control.
IRF8 (Interferon Regulatory Factor 8) is a gene that encodes a transcription factor vital for the development and function of immune cells, particularly dendritic cells and macrophages. It helps regulate genes involved in immune responses and antigen presentation. Alterations in IRF8 can impact immune cell differentiation and overall immune function.
Ostrich meat intolerance refers to difficulty digesting ostrich meat, a lean, flavoursome protein often compared to beef and gaining popularity as an alternative to traditional meats. While ostrich is rich in nutrients and low in fat, intolerance can cause digestive discomfort and limit an individual’s ability to consume it without adverse effects.
STARD3 (StAR-Related Lipid Transfer Domain Containing 3): STARD3 is a protein that plays a key role in cholesterol trafficking and homeostasis within cells. It facilitates the movement of cholesterol between endosomes and the plasma membrane or endoplasmic reticulum. As a member of the START domain family, STARD3 is essential for sterol and lipid transport. Changes in its function can influence cellular cholesterol distribution, affecting membrane composition, signalling pathways, and potentially contributing to atherosclerosis.
LMF2 (Lipase Maturation Factor 2): LMF2 is a gene that encodes a protein essential for the maturation and proper functioning of lipases, enzymes critical for lipid metabolism. It is involved in the processing and activation of lipases within the endoplasmic reticulum. Defects in LMF2 may contribute to dyslipidaemia and other metabolic disorders related to lipid metabolism.
Tuna intolerance is a condition that involves difficulty digesting tuna, a type of fish. Unlike a tuna allergy, which triggers an immune system response and can cause severe reactions, tuna intolerance mainly results in digestive discomfort. People with this condition usually experience gastrointestinal symptoms after eating tuna.
CA8, also known as Carbonic Anhydrase VIII, is an enzyme from the carbonic anhydrase family that catalyses the reversible hydration of carbon dioxide into bicarbonate ions and protons. Found mainly in the cytoplasm and mitochondria of cells, CA8 plays an important role in maintaining pH balance and regulating ion transport. This enzyme is expressed in multiple tissues, including the brain, kidneys, and reproductive organs, indicating its diverse physiological functions beyond typical carbonic anhydrase activity. In the central nervous system, CA8 is especially abundant in Purkinje cells of the cerebellum.
Urine density, also known as urine specific gravity, is a measurement of the concentration of solutes in the urine. It indicates the kidney’s ability to concentrate or dilute urine and acts as a marker of hydration status and kidney function. Although normal values may vary, abnormalities can suggest dehydration, overhydration, or underlying kidney conditions.
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.
ULK3 (Unc-51 Like Kinase 3): ULK3 is a member of the serine/threonine kinase family, involved in regulating key cellular processes such as autophagy, which helps break down and recycle cellular components. While its precise functions and impact on human health and disease are still being studied, ULK3 plays an important role in maintaining cellular homeostasis.
PRRC2A (Proline-Rich Coiled-Coil 2A): PRRC2A is a protein-coding gene involved in essential cellular processes, including cell division and gene regulation. It features proline-rich domains and coiled-coil regions, which are crucial for protein-protein interactions. Although its exact functions are still under investigation, PRRC2A is linked to certain cancers and may affect cell growth and differentiation.
Shallots are a type of onion known for their mild and sweet flavour and are used as a staple ingredient in many cuisines worldwide. However, some individuals may experience shallot intolerance, which affects their ability to consume shallots without discomfort.
NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38 is a component of the N-terminal acetyltransferase complex responsible for catalysing the transfer of acetyl groups to the N-terminus of proteins. This modification influences protein stability, localisation, and function. Although the precise biological roles and substrate specificity of NAA38 are not yet fully understood, N-terminal acetylation is a common and important post-translational modification. Studying NAA38 and similar enzymes helps reveal regulatory mechanisms of protein function and the impact of protein acetylation on cellular processes and disease.
BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase): BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) is a key protein involved in the MAPK/ERK signalling pathway, which regulates cell growth, division, and differentiation. Mutations in BRAF are associated with several cancers, including melanoma, thyroid, and colorectal cancer, as well as some non-cancerous conditions such as cardiofaciocutaneous syndrome, which affects the heart, facial features, and skin.
CD96 (CD96 Molecule): CD96 is a member of the immunoglobulin superfamily involved in immune responses. It plays a role in T-cell adhesion and activation and is considered a potential target in cancer immunotherapy due to its function in tumour immunity.
SRR (Serine Racemase): SRR is an enzyme that catalyses the production of D-serine, a co-agonist of the NMDA receptor. Both are essential for neurotransmission and synaptic plasticity in the brain. Changes in SRR activity can impact glutamatergic signalling and have been associated with neurodegenerative diseases such as Alzheimer’s and psychiatric disorders like schizophrenia, highlighting its important role in brain function and mental health.
IL6 (Interleukin 6): IL6 is a cytokine that indicates the activity of the immune system and inflammation. It plays a vital role in coordinating the body’s defence mechanisms during infection and injury. IL6 helps regulate inflammatory responses and directs the mobilisation of immune cells to target threats. Researchers study IL6 to understand its complex interactions and its impact on both normal immune function and inflammatory diseases.
GLO1 (Glyoxalase I): GLO1 is a gene that encodes an enzyme responsible for detoxifying methylglyoxal, a harmful by-product of metabolism. GLO1 helps protect cells against oxidative stress and is involved in conditions such as diabetes and other diseases where glyoxalase activity is important.
PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB is a gene that encodes a catalytic subunit of protein phosphatase 1 — an enzyme essential for regulating cellular processes through dephosphorylation. It plays crucial roles in muscle contraction, glycogen metabolism, and cell division. Dysregulation of PPP1CB activity has been associated with various diseases, including heart conditions and certain cancers.
NCLN (Nicalin): NCLN is a protein that forms part of a complex regulating intracellular signalling pathways essential for development. It plays a critical role in modulating Notch signalling — a pathway controlling cell differentiation, proliferation, and apoptosis. Disruption of NCLN or related pathways can contribute to developmental disorders and various diseases, including cancer, emphasising its importance in cellular communication and overall developmental processes.
MSRB2 (Methionine Sulfoxide Reductase B2): MSRB2 is an enzyme that helps repair oxidised methionine residues in proteins, safeguarding cells from oxidative stress and preserving protein function. It is a key component of the body’s antioxidant defence system, supporting cellular resilience against environmental challenges. Studies on MSRB2 explore its potential links to ageing, neurodegenerative disorders, and other conditions associated with oxidative damage.
STARD5 (StAR-Related Lipid Transfer Domain Containing 5): STARD5 is a protein that reflects the activity of the START domain family, involved in the transport and distribution of lipids within cells. It plays a key role in regulating lipid metabolism and maintaining lipid homeostasis, particularly in the liver and gastrointestinal tract. While its specific functions are still being studied, STARD5’s role in lipid transport suggests potential implications for metabolic disorders and diseases related to lipid dysregulation.
Enterococcus is a type of bacteria that naturally inhabits the human intestines as part of the normal gut flora. It contributes to aspects of gut health, but excessive growth in stool can indicate microbial imbalance or a possible infection, particularly in individuals with weakened immune systems.
PITX2 (Paired Like Homeodomain 2): PITX2 is a transcription factor that plays a vital role in the development of various organ systems, including the eyes, heart, and abdominal organs. It is involved in establishing the body’s left-right asymmetry. Mutations in PITX2 are associated with Axenfeld-Rieger syndrome, a condition affecting the eyes and other organs. Understanding PITX2 is important for developmental biology and for investigating treatments for related congenital disorders.
RSPO3 (R-Spondin 3): RSPO3 is a member of the R-spondin family that modulates the Wnt signalling pathway, which is essential for embryonic development and cell growth. It plays key roles in processes such as vascular development and stem cell proliferation. Dysregulation of RSPO3 has been associated with conditions including cancer.
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.
Barley is a widely used grain found in a variety of foods and drinks — from bread and cereals to beer. For some people, barley can trigger an allergic reaction due to its protein content. Recognising the symptoms and properly managing a barley allergy is important for those affected.
CRHR1 (Corticotropin-Releasing Hormone Receptor 1): CRHR1 is a receptor for corticotropin-releasing hormone, a key regulator of the body’s stress response. It plays a central role in the hypothalamic-pituitary-adrenal (HPA) axis, influencing stress regulation, mood, and behaviour. Dysregulation of CRHR1 has been linked to psychiatric conditions such as depression and anxiety.
SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein with SH3 and SYLF domains, suggesting a role in protein-protein interactions. Although its exact functions are still being researched, SH3YL1 is believed to be involved in cellular signalling pathways and the regulation of membrane dynamics.
Silver is a metal with diverse applications in industry and medicine, but it can become toxic with significant human exposure. While small amounts occur naturally in the environment and consumer products, excessive exposure can lead to health concerns such as argyria – a condition that permanently turns the skin blue-grey. Ingesting, inhaling, or contacting silver compounds can cause argyria and may also affect the liver and kidneys.
SULT2A1 (Sulfotransferase Family 2A Member 1): SULT2A1 is a gene that encodes an enzyme from the sulfotransferase family. This enzyme is responsible for sulphating a variety of compounds, including hormones, drugs, and xenobiotics. The sulphation reactions catalysed by SULT2A1 are essential for metabolising and eliminating these substances, playing a key role in the body’s detoxification processes.
Creatine Kinase (CK) is an enzyme found in the heart, brain, skeletal muscles, and other tissues. Raised CK levels in the blood indicate muscle damage, as the enzyme is released when muscle cells are harmed. There are different types of CK, including CK-MM found in skeletal muscle, CK-MB mainly in the heart, and CK-BB typically in the brain. Measuring CK levels is useful for diagnosing and monitoring muscle damage, such as that caused by a heart attack (myocardial infarction).
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.
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.
BNIP5 (BCL2/Adenovirus E1B 19 kDa Interacting Protein 5): BNIP5 is a protein involved in regulating apoptosis and cell survival. It interacts with members of the Bcl-2 family — key proteins that control cell death and survival — and plays an important role in research on cancer development and cellular stress responses.
Gold is a precious metal valued for its aesthetic appeal and industrial uses. It is commonly found in electronics, dentistry, and jewellery, and generally poses little risk in small amounts. However, prolonged skin contact or exposure to gold dust in industrial settings can cause dermatitis and allergic reactions. Inhalation of gold nanoparticles in manufacturing environments may also impact respiratory health.
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.
PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): PPP2R3C is a gene that encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex. PP2A is a serine/threonine phosphatase involved in controlling cell growth and division. PPP2R3C modulates PP2A activity, affecting key signalling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its function is essential for maintaining cellular homeostasis and regulating cell cycle checkpoints.
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.
Green bean intolerance is a condition where the body experiences difficulty digesting green beans, leading to gastrointestinal discomfort. Unlike a green bean allergy, which triggers an immune response and can cause more severe reactions, intolerance generally results in digestive symptoms that occur after eating green beans.
SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule that supports the development of the cardiovascular and lymphatic systems. It is involved in cell-to-cell interactions and signalling pathways essential for vascular stability and immune function. Variations in SVEP1 have been associated with cardiovascular conditions and may influence immune-related disorders.
C1ORF87 (Chromosome 1 Open Reading Frame 87): C1ORF87 is a gene that remains poorly characterised, with its role in human biology not yet fully established. Genes described as "open reading frames" (ORFs) are frequently subjects of ongoing research aimed at uncovering their functions in cellular processes and their potential effects on health and disease.
Histidine is an essential amino acid that supports immune function, tissue repair, and nerve protection. It is a precursor to histamine, a compound important for immune responses and digestion. Found in foods such as meat, fish, and dairy, histidine is vital for maintaining healthy tissues, blood cells, and the myelin sheath around nerve cells.
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.
Pike fish intolerance is a condition that affects the body’s ability to comfortably digest pike — a freshwater fish prized for its mild flavour and culinary versatility. While enjoyed by many seafood enthusiasts, intolerance can cause digestive discomfort and related symptoms in sensitive individuals.
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.
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.
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.
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.
THAP2 (THAP Domain Containing 2): THAP2 is a member of the THAP domain-containing protein family, characterised by a specific DNA-binding domain. These proteins are involved in cell proliferation, apoptosis, and regulation of gene expression. While the specific functions of THAP2 are not fully understood, it may play a role in transcriptional regulation.
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.
TSKU (Tafazzin Knockdown Factor Upstream): TSKU is a gene associated with tafazzin, an enzyme involved in the biosynthesis of cardiolipin, a phospholipid found in the inner mitochondrial membrane. Tafazzin plays a pivotal role in mitochondrial function and energy production. The role of TSKU in regulating tafazzin indicates its significance in preserving mitochondrial membrane integrity.
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.
Pistachio intolerance refers to the body's difficulty in digesting certain components found in pistachio nuts, leading to adverse reactions or symptoms after consumption. Unlike pistachio allergies, it does not involve an immune system response to specific proteins but is related to digestive sensitivity to pistachios.
TBX2 (T-Box Transcription Factor 2): TBX2 is a gene that encodes a transcription factor belonging to the T-box family. It plays a crucial role in embryonic development and tissue differentiation, particularly in heart formation and limb development.
NSMCE1 (Nonspecific Mitochondrial Enzyme 1): NSMCE1 is a gene that encodes a protein involved in maintaining mitochondrial DNA integrity. It plays a role in the repair and replication of mitochondrial DNA, supporting proper mitochondrial function and energy production in cells.
Gonorrhoea is a sexually transmitted infection (STI) caused by the bacterium Neisseria gonorrhoeae. It can affect the urethra, rectum, and throat, and in women, may also infect the cervix. Most common among people aged 15–24, gonorrhoea can lead to serious health complications if left untreated.
Goldenrod is a flowering plant often mistaken as the cause of hay fever, but the real culprit is usually ragweed, which blooms at the same time and produces highly allergenic pollen. Goldenrod’s pollen is heavy and sticky, making it less likely to become airborne. While allergic reactions to goldenrod can occur, they are uncommon and usually involve symptoms similar to hay fever.
AK9 (Adenylate Kinase 9): Adenylate is a gene that encodes an enzyme from the adenylate kinase family, which catalyses the reversible transfer of phosphate groups between adenine nucleotides, mainly ATP and AMP. AK9 localises to the mitochondria, where it supports energy metabolism and nucleotide balance. By facilitating ATP-AMP interconversion, it helps regulate cellular energy levels and contributes to processes such as mitochondrial function, apoptosis, and stress responses. Dysregulation of AK9 may impact metabolic and cellular homeostasis.
HFE (Homeostatic Iron Regulator): HFE is a gene that plays a crucial role in regulating iron absorption and maintaining iron balance in the body. Mutations in HFE can lead to hereditary haemochromatosis, a condition characterised by excessive iron accumulation, which may cause damage to organs.
Saliva alcohol testing is a quick and non-invasive method that detects the presence of alcohol in the body through a saliva sample. This type of testing is commonly used in environments such as workplace screening, law enforcement, and personal sobriety monitoring. It measures the approximate blood alcohol concentration (BAC), providing immediate insights into an individual’s recent alcohol consumption and current level of intoxication.
Glyphosphate: Glyphosphate is a chemical compound used as an active ingredient in many herbicides. It works by inhibiting an enzyme essential for plant growth, making it effective for weed control. Glyphosphate is commonly applied to crops such as wheat, soybean, and maize and can be found in food and water. Exposure to glyphosphate has been associated with potential health risks, and its presence in the body can offer insights into environmental and dietary impacts.
TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine that plays a crucial role in regulating cell growth, proliferation, differentiation, and apoptosis. It is essential for embryonic development and tissue repair and has been associated with various conditions, including cancer and fibrotic diseases.
PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a key growth factor involved in cell signalling and tissue repair. As part of the platelet-derived growth factor (PDGF) family, it plays an essential role in promoting cell proliferation, migration, wound healing, tissue remodelling, and the formation of new blood vessels (angiogenesis).
THEMIS2 (Thymocyte Selection Associated Family Member 2): THEMIS2 is a gene primarily expressed in immune cells and involved in regulating innate immune responses. It participates in signalling pathways that influence the activation and function of macrophages and B cells. Its role in immune regulation suggests potential involvement in inflammatory diseases and makes it a possible target for modulating immune activity in autoimmunity and infection.
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.
CELF2 (CUGBP Elav-Like Family Member 2): CELF2 is a member of the CUG-BP, Elav-like family of RNA-binding proteins, which play essential roles in regulating RNA processing, including alternative splicing, stability, and translation. CELF2 is involved in immune system development and function and has been linked to neurological disorders. Its role in post-transcriptional gene regulation makes it an important factor in cell differentiation and disease development, presenting potential targets for therapeutic intervention.
TSLP (Thymic Stromal Lymphopoietin): TSLP is a cytokine that plays a crucial role in triggering allergic inflammation and regulating immune responses at the epithelial barrier. It acts on dendritic cells, encouraging a Th2-skewed immune response, which is fundamental to the development of allergic conditions such as asthma, atopic dermatitis, and eosinophilic oesophagitis. Research into TSLP centres on its potential as a therapeutic target, with insights into its mechanisms providing opportunities for innovative treatments of these disorders.
OPCML (Opioid Binding Protein/Cell Adhesion Molecule Like): OPCML is a glycosylphosphatidylinositol-anchored protein involved in cell adhesion and signalling. It has been identified as a tumour suppressor, with its expression often reduced in various cancers, indicating a protective role against tumour development and progression.
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.
Total IgE testing measures the overall level of Immunoglobulin E (IgE) antibodies in the blood, which are produced in response to allergens. Elevated levels may indicate increased allergic sensitivity but do not pinpoint specific allergens.
MPO (Myeloperoxidase): MPO is an enzyme predominantly found in neutrophils and plays a vital role in the body’s defence system. It produces hypochlorous acid and other reactive molecules from hydrogen peroxide to fight bacteria and pathogens. Although crucial for immune defence, MPO activity can also lead to tissue damage during inflammation and has been associated with diseases, including cardiovascular conditions, due to its involvement in oxidative stress.
Cholesterol is a waxy, fat-like substance found in all cells of the body and is essential for producing hormones, vitamin D, and digestive substances. While the body produces all the cholesterol it needs, it is also present in animal-based foods such as meat and dairy. There are two main types: low-density lipoprotein (LDL), or “bad” cholesterol, which can contribute to plaque buildup in arteries, and high-density lipoprotein (HDL), or “good” cholesterol, which helps remove excess cholesterol from the bloodstream.
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.
MARCO (Macrophage Receptor With Collagenous Structure): MARCO is a receptor expressed on the surface of macrophages that plays a role in the immune system’s response to pathogens and particulate matter. It is involved in recognising and clearing bacteria and environmental particles, contributing to innate immunity and the regulation of inflammation.
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.
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.
Chanterelle intolerance is a condition characterised by difficulty digesting chanterelle mushrooms, a type of edible fungus known for their rich flavour and distinctive shape. Unlike a true allergy, which involves an immune response, chanterelle intolerance typically results in gastrointestinal symptoms such as bloating, flatulence, or discomfort after consumption.
Hamster allergies are a condition caused by allergens found in a hamster’s dander, saliva, and urine. These allergens can provoke reactions in individuals through direct contact with the animal or from airborne exposure. Such allergic responses are common in households with hamsters or in pet care settings.
Maple leaf sycamore, also known as sycamore maple, is a major cause of spring allergies. Its pollen can irritate sensitive individuals, leading to seasonal allergic rhinitis. Symptoms tend to worsen on bright, windy days when pollen levels are at their highest in the air.
TNF (Tumour Necrosis Factor): TNF is a cytokine that reflects the activity of the immune system in response to infection and tissue damage. TNF plays a key role in regulating inflammation and immune responses, and its dysregulation is associated with autoimmune diseases and chronic inflammatory conditions.
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.
PTPRM (Protein Tyrosine Phosphatase Receptor Type M): PTPRM is a receptor-type protein tyrosine phosphatase involved in cell signalling and regulation of tyrosine phosphorylation. It contributes to processes such as cell adhesion, migration, and neuronal development. Dysregulation of PTPRM has been linked to cancer progression and certain neuronal disorders.
NFIA (Nuclear Factor I A) is a transcription factor that plays key roles in regulating gene expression, cellular differentiation, and development. It is primarily located in the nucleus and belongs to the Nuclear Factor I (NFI) family, a group of conserved DNA-binding proteins involved in controlling transcription. NFIA functions by binding to specific DNA sequences called NFIA recognition elements in gene promoters, influencing gene activity through interactions with co-regulators and chromatin-modifying enzymes.
PRDM16 (PR Domain Containing 16): PRDM16 is a transcription factor that plays a key role in regulating the differentiation of brown adipocytes and activating thermogenesis. It is essential for controlling energy expenditure and metabolic health. As a central player in managing the body’s energy balance, PRDM16 holds significant potential in advancing our understanding of metabolism and addressing obesity.
OR5H14 (Olfactory Receptor Family 5 Subfamily H Member 14): OR5H14 is part of the olfactory receptor (OR) gene family, which is responsible for detecting and binding odour molecules. These receptors play a key role in the sense of smell. The specific ligands and precise function of OR5H14 in olfaction are not yet fully understood, but it contributes to the complexity and diversity of smell perception.
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.
NFATC2 (Nuclear Factor Of Activated T-Cells 2): NFATC2 is a transcription factor that plays a crucial role in regulating immune responses. It is activated in T cells by signals that increase intracellular calcium, enabling it to translocate to the nucleus and influence genes involved in T cell activation and differentiation. NFATC2 is essential for proper immune system development, and its dysregulation has been associated with autoimmune diseases and immunodeficiency.
MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. While its specific function remains under investigation, MFSD10 may contribute to nutrient transport and the maintenance of cellular homeostasis.
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.
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.
TCERG1L (Transcription Elongation Regulator 1-Like): TCERG1L is a protein involved in the regulation of gene transcription, particularly during the elongation phase of RNA polymerase II activity. It plays a key role in ensuring accurate gene expression and influences the transcription of specific genes, thereby affecting cellular processes such as development and stress response. Understanding TCERG1L helps clarify the mechanisms of gene regulation and their relevance to diseases linked to transcriptional dysregulation.
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.