HIV-2 is a less common strain of the human immunodeficiency virus. Like HIV-1, it targets immune cells and can result in immune system suppression over time, but it is generally linked to a slower progression of the disease. HIV-2 remains clinically significant and necessitates accurate diagnostic confirmation and ongoing medical monitoring.
HIV-1 is the most common variety of the human immunodeficiency virus. It primarily attacks immune cells (especially CD4 T-cells) and, if untreated, can gradually weaken the immune system over time. HIV-1 is the main cause of the global HIV epidemic and is the strain most people mean when they say “HIV”.
RAB38 is a member of the Ras-related protein family and functions as a key regulator of intracellular membrane trafficking, especially within the endosomal-lysosomal system. Mainly found in the cytoplasm, RAB38 coordinates the movement and fusion of membrane-bound vesicles, ensuring correct sorting and delivery of cargo molecules. This protein has a specialized role in melanosome biogenesis, supporting the maturation and transport of melanosomes—organelles responsible for melanin synthesis and distribution in melanocytes. Through its interactions with effector proteins and membrane fusion machinery, RAB38 facilitates these essential cellular processes.
PAX1 (Paired Box 1): PAX1 is a vital regulatory gene involved in the development of the spine and thoracic cage. It plays an essential role in skeletal formation, and mutations in PAX1 can lead to congenital spinal and skeletal deformities.
p-Cresol sulfate is a metabolite produced by intestinal bacteria through the breakdown of the amino acid tyrosine.
It is primarily detoxified in the liver and excreted by the kidneys.
Higher levels may reflect increased bacterial protein fermentation, impaired detoxification, or reduced renal clearance.
Balanced levels indicate efficient gut microbial metabolism and normal liver–kidney function.
MTRR (Methionine Synthase Reductase): MTRR is an enzyme that plays a vital role in regenerating methylcobalamin, supporting the ongoing function of MTR in homocysteine metabolism. It is crucial for maintaining proper methionine levels and normal DNA synthesis. Mutations in MTRR are associated with homocystinuria, which can lead to developmental and neurological complications. Understanding MTRR function offers insights into potential therapies for genetic disorders.
ZKSCAN5 (Zinc Finger with KRAB and SCAN Domains 5): ZKSCAN5 encodes a zinc finger protein that contains KRAB (Krüppel-associated box) and SCAN (SRE-ZBP, CTfin51, AW-1, and Number 18 cDNA) domains. These domains play vital roles in transcriptional regulation and DNA binding. The specific functions of ZKSCAN5 are still being studied.
Sarcosine is an amino acid that supports mental health and metabolism. It plays a role in synthesising other amino acids, aiding muscle growth, and supporting cognitive function. Naturally found in egg yolks, turkey, and legumes, sarcosine is associated with brain health and is being researched for its potential in mental health.
CASQ2 (Calsequestrin 2): CASQ2 is a protein involved in calcium storage within the sarcoplasmic reticulum of cardiac muscle cells. It plays a key role in regulating calcium balance and cardiac muscle contraction. Mutations in CASQ2 are associated with catecholaminergic polymorphic ventricular tachycardia, a condition characterized by irregular heartbeats triggered by physical activity or stress.
LBP (Lipopolysaccharide-Binding Protein): LBP is a protein that plays a vital role in the immune response against bacterial infections. It binds to bacterial lipopolysaccharides (LPS) and aids in activating the innate immune system. LBP is a crucial part of the body's defence against bacterial pathogens.
Tarragon is a fragrant herb known for its distinctive anise-like flavor and is commonly used to enhance the taste of various dishes. While generally safe, some people may have a tarragon intolerance, which can affect their ability to consume it comfortably.
REX1BD (REX1 Basic Domain): REX1BD is a gene region characterised by a basic domain that may contribute to DNA binding or protein–protein interactions. While its exact functions and roles in cellular processes are not yet fully understood, ongoing research aims to clarify its significance in biological systems.
PFKP (Phosphofructokinase, Platelet): PFKP is a crucial enzyme in the glycolytic pathway that controls the rate of glucose metabolism. It catalyses the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Proper regulation of PFKP is vital for cellular energy production, and its dysregulation has been studied in cancer, where altered glucose metabolism is commonly seen.
SCAMP5 (Secretory Carrier Membrane Protein 5): SCAMP5 is a member of the SCAMP family, involved in membrane trafficking processes. It plays a key role in regulating membrane recycling and exocytosis, especially in neurons. SCAMP5 is important for neurotransmitter release and neuronal communication, and its function may have implications in neurological disorders.
ADH1B (Alcohol Dehydrogenase 1B): ADH1B is a gene that encodes an enzyme involved in the first step of alcohol metabolism, converting ethanol into acetaldehyde. Genetic variations in ADH1B can influence the rate of alcohol metabolism, affecting alcohol tolerance and the risk of alcohol-related diseases.
NUDT9 (Nudix Hydrolase 9): NUDT9 is a gene that encodes a member of the Nudix hydrolase family. Proteins in this family are involved in the hydrolysis of nucleoside diphosphate derivatives. While the specific substrates and functions of NUDT9 are still being studied, it plays a role in nucleotide metabolism and cellular homeostasis.
LIN7C (Lin-7 Homolog C, Crumbs Cell Polarity Complex Component): LIN7C is a protein that represents the function of the LIN7 family in establishing and maintaining cell polarity. It is crucial for proper cell functioning and tissue organisation, especially in neural and epithelial cells. Mutations or dysregulation of LIN7C can disturb cell polarity and signalling, potentially leading to developmental abnormalities or disease.
Fruit allergies, including those to kiwi, mango, and banana, are increasingly acknowledged and represent the body's immune response to specific proteins found in these fruits. These allergies can trigger a spectrum of symptoms, ranging from mild discomfort to severe reactions, and effective identification and management are crucial for maintaining health and well-being.
Acinetobacter spp. are a group of gram-negative bacteria commonly found in soil, water, and sometimes in the human gut. Although not typically dominant in a healthy microbiome, certain strains may colonize the intestines, especially following antibiotic use or in hospital environments. Some species, such as Acinetobacter baumannii, are known for their resistance to antibiotics and their role in infections, particularly in immunocompromised individuals. In stool analysis, the presence of Acinetobacter may reflect environmental exposure, microbial imbalance, or antibiotic-related shifts in gut flora.
KCNMB3 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3): KCNMB3 is a member of the calcium-activated potassium channels family that plays a role in regulating neuronal excitability and vascular tone. This gene is crucial for the control of blood pressure and cardiovascular function, with variations in KCNMB3 potentially linked to hypertension and heart disease.
Tuna and salmon are widely favored fish choices across India, appreciated for their flavour and nutritional value. However, some people may have allergic reactions to these fish — a condition that can vary from mild discomfort to severe, life-threatening situations. Recognising the symptoms, triggers, and ways to manage tuna and salmon allergies is crucial for those affected.
Dermatophagoides pteronyssinus (D. pteronyssinus), commonly referred to as the European house dust mite, is a prevalent indoor allergen. These microscopic creatures flourish in warm, humid conditions and feed on organic materials such as human skin flakes. Their body fragments and waste products can trigger allergic reactions and asthma in sensitive individuals.
Catnip (Nepeta cataria) is a herbaceous plant from the mint family, best known for its stimulating effects on cats. While not commonly consumed by humans, some people may experience catnip intolerance — a sensitivity to its compounds that can cause digestive discomfort. This is different from a catnip allergy, which involves an immune response and can lead to more severe symptoms.
5-Hydroxyindoleacetate (5-HIAA) is a measure that reflects the breakdown of serotonin, a key neurotransmitter in the body. It is primarily used as a clinical marker, particularly for detecting and monitoring carcinoid tumours that may overproduce serotonin. Urinary 5-HIAA levels can also serve as an approximate indicator of the body’s overall serotonin levels.
Syphilis is a sexually transmitted infection (STI) caused by the bacterium Treponema pallidum. It progresses through multiple stages — primary, secondary, latent, and tertiary — and can affect different organ systems over time. Syphilis is mainly transmitted through sexual contact, including oral, anal, and vaginal sex, and can also be passed from mother to child during pregnancy, resulting in congenital syphilis.
Bilirubin is a yellow compound that indicates the breakdown of red blood cells in the body. It is transported to the liver, where it is processed and excreted into the bile. Proper liver function ensures bilirubin is effectively filtered from the blood and converted into a form that can be eliminated through the digestive system. Blood bilirubin levels are an important marker of liver health, bile duct function, and red blood cell turnover.
Shellfish allergies are a type of food allergy that affect both adults and children. This allergy often involves a variety of shellfish, including blue mussel, oyster, clam, and scallop. Because allergic reactions can be severe, understanding how to recognise and manage a shellfish allergy is essential for those affected.
The Testosterone/Cortisol ratio reflects the balance between anabolic (building) and catabolic (breaking down) processes in the body. Testosterone supports muscle growth, energy, and recovery, while cortisol is a stress hormone that can promote tissue breakdown when chronically elevated. A healthy ratio may indicate good resilience, recovery capacity, and hormonal balance, whereas a low ratio may suggest high stress load, overtraining, or hormonal imbalance. This marker is particularly relevant for athletes, individuals under chronic stress, or those with fatigue-related symptoms. It helps provide context to both testosterone and cortisol values when interpreted together.
Branched-Chain Amino Acids (BCAAs) refer to a group of three essential amino acids: leucine, isoleucine, and valine. These amino acids play key roles in muscle protein synthesis, energy production, and recovery, especially during physical activity. Measuring total BCAA levels in the blood provides insight into protein metabolism, nutritional status, and muscle health. Imbalances can be linked to poor dietary intake, metabolic dysfunction, or increased demand due to stress, illness, or intense training. BCAA levels are particularly relevant for athletes, individuals with fatigue, or those recovering from illness or muscle loss.
Blood group B has B antigens on red blood cells and anti-A antibodies in the plasma. Individuals with this blood type can donate blood to those with blood group B or AB. They can receive blood from donors with blood group B or O. Blood group B is less common in certain regions. Compatibility is crucial for safe transfusions.
Barley is a commonly 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 because of its protein content. Identifying the symptoms and effectively managing a barley allergy is crucial for those affected.
Citrate is a compound that plays a vital role in the citric acid cycle, essential for energy production in aerobic organisms. It helps break down carbohydrates, fats, and proteins to produce ATP (energy). Citrate also aids in regulating the body’s acid-base balance and helps prevent kidney stones by binding with calcium.
IgG antibodies are produced later in the immune response and usually indicate past exposure to Mycoplasma pneumoniae. They typically appear 2–3 weeks after the onset of infection and can remain detectable for months or even years. A positive IgG result does not necessarily mean there is an active infection, but it shows that the immune system has encountered the pathogen before. When tested alongside IgM, IgG helps distinguish between acute, recent, and past infections.
SELENOM (Selenoprotein M): SELENOM is a member of the selenoprotein family, proteins that incorporate selenium. It is primarily found in the brain and is believed to have antioxidant properties. While its exact role in neurological function is not fully understood, SELENOM may help protect neurons from oxidative stress, with potential implications for neurodegenerative diseases.
The Monkeypox virus A29L antigen is a surface protein linked to the monkeypox virus (Mpox), a zoonotic virus that can spread from animals to humans and among people. Detecting the A29L antigen in a sample signifies an active infection, as antigens are usually found during the early symptomatic stage of the disease.
PRIMA1 (Proline Rich Membrane Anchor 1): PRIMA1 is a gene that encodes a protein responsible for anchoring acetylcholinesterase to neuronal membranes. This protein plays a crucial role in the breakdown of the neurotransmitter acetylcholine and is essential for regulating cholinergic neurotransmission. It is also significant in research related to neurodegenerative diseases such as Alzheimer's.
MDFI (MyoD Family Inhibitor): MDFI is a gene that plays a role in regulating muscle differentiation and development. It acts as an inhibitor of MyoD family transcription factors, which are crucial regulators of myogenesis. By modulating their activity, MDFI helps control the proliferation and differentiation of muscle cells, playing an essential role in muscle formation and repair. Dysregulation of MDFI can affect muscle development and regeneration.
Firmicutes is one of the major bacterial phyla in the human gut microbiome, comprising many species involved in energy extraction from food. These bacteria are efficient at breaking down complex carbohydrates and producing short-chain fatty acids, which can support gut and metabolic health. However, a disproportionately high ratio of Firmicutes to Bacteroidetes has been associated in some studies with obesity and metabolic disturbances. The balance of Firmicutes is therefore an important marker for assessing microbial diversity and potential metabolic tendencies. Individual health effects depend on overall composition and host factors.
New World hookworms (Necator americanus) are parasitic worms commonly found in the Americas. These parasites attach themselves to the walls of the intestines in their hosts, causing chronic blood loss, anaemia, and protein deficiency. The larvae can penetrate the skin when individuals come into contact with contaminated soil, putting them at risk of infection.
King crab, a highly sought-after delicacy in seafood cuisine, is cherished for its rich flavor and tender texture. However, some people may have an intolerance to king crab, which can restrict their ability to enjoy this seafood.
Pinworms (Oxyuris), also known as threadworms, are common intestinal parasites, especially in children. These small, white worms cause itching around the anus, disturbed sleep, and irritability due to laying eggs at night. Infection spreads through the faecal-oral route, often by swallowing microscopic eggs from contaminated hands, surfaces, or food.
Sex hormone-binding globulin (SHBG) is a glycoprotein primarily produced by the liver that binds and transports sex steroids—mainly testosterone and estradiol—in the bloodstream. By binding to these hormones, SHBG regulates their biological availability to tissues. Higher SHBG levels typically decrease the free (unbound) fraction of testosterone and estradiol, while lower SHBG levels increase it. Due to this buffering function, SHBG plays a crucial role in maintaining hormonal balance in both men and women and is frequently measured alongside total testosterone and estradiol to support clinical interpretation.
Aubergine intolerance, also referred to as eggplant intolerance in some areas, is a condition characterised by difficulty in digesting aubergine. Unlike an aubergine allergy, which involves an immune system reaction and can cause more serious responses, intolerance mainly results in gastrointestinal discomfort. Individuals with aubergine intolerance usually experience digestive symptoms after eating aubergine.
Cabbage intolerance means having trouble digesting cabbage, often leading to stomach discomfort. Unlike a cabbage allergy, which causes an immune system response, this intolerance is linked to digestion and usually leads to symptoms after eating cabbage.
Herring intolerance is a condition where the body struggles to digest herring, often resulting in gastrointestinal discomfort. Unlike a herring allergy, which triggers an immune response and can cause severe reactions, herring intolerance usually causes only digestive symptoms after consuming this type of fish.
Chamomile tea intolerance is a condition that causes difficulty in digesting chamomile tea, an herbal infusion made from dried chamomile flowers. Unlike a chamomile tea allergy, which triggers an immune response and can cause more severe reactions, intolerance mainly results in digestive discomfort. Individuals with chamomile tea intolerance typically experience gastrointestinal symptoms after drinking chamomile tea.
Acarus siro, commonly called the flour mite, is a species frequently found in stored grains and flour. These mites thrive in kitchen cupboards and pantries, especially under humid conditions. For sensitive individuals, exposure can trigger allergic reactions and may be particularly problematic for those with pre-existing respiratory conditions.
Honey intolerance is a condition where individuals have trouble digesting honey, a natural sweetener made by bees. It can lead to gastrointestinal discomfort and is different from a honey allergy, which involves an immune response and can cause more serious symptoms. People with honey intolerance usually experience digestive problems after eating honey or products that contain it.
LDL (Low-Density Lipoprotein) is a type of cholesterol commonly known as “bad” cholesterol. It transports cholesterol particles through the bloodstream, and elevated levels can lead to plaque accumulation in the arteries. This accumulation, called atherosclerosis, can narrow and harden the arteries, raising the risk of heart disease and stroke.
Rye intolerance is a condition where the body struggles to digest rye, causing gastrointestinal discomfort. Unlike a rye allergy, which triggers an immune response and can lead to more severe symptoms, rye intolerance usually results in digestive problems after consuming rye or products made from rye.
AHSG (Alpha-2-HS-Glycoprotein), also known as fetuin-A, is a glycoprotein involved in various physiological processes, including inhibition of mineralisation and regulation of insulin sensitivity. Elevated AHSG levels have been linked to insulin resistance and metabolic syndrome, suggesting its potential as a biomarker for these conditions.
Shrimp allergy is a common shellfish allergy caused by an immune reaction to proteins found in shrimp. It is one of the most frequent food allergies in adults and can trigger symptoms ranging from mild to severe, including anaphylaxis. This allergy is usually lifelong and may be triggered by consuming shrimp or even inhaling steam during cooking.
ATP8B1 (ATPase Phospholipid Transporting 8B1) is a gene that encodes a phospholipid transporter located in the liver cell membrane. It plays a crucial role in maintaining the lipid balance of cell membranes and bile. Mutations in ATP8B1 can cause progressive familial intrahepatic cholestasis (PFIC), a group of inherited liver disorders.
Avocado intolerance is a condition where individuals face difficulty digesting avocado, often leading to gastrointestinal discomfort. Unlike avocado allergy, which causes an immune system reaction and can result in more serious effects, avocado intolerance is confined to digestive symptoms that occur after eating avocado.
Urinary leukocytes are white blood cells present in urine. They are usually absent or found in very small amounts, and elevated levels often indicate infection or inflammation in the urinary tract or kidneys. Their presence is a key indicator for diagnosing urinary tract infections (UTIs) and other kidney-related disorders.
Non-HDL cholesterol measures all harmful types of cholesterol, including LDL (low-density lipoprotein), VLDL (very low-density lipoprotein), and other lipid particles that lead to plaque accumulation in your arteries. It is calculated by subtracting your HDL (high-density lipoprotein) or "good" cholesterol level from your total cholesterol count. Non-HDL cholesterol is regarded as a more comprehensive indicator of heart disease risk than LDL cholesterol alone, as it accounts for all atherogenic particles.
Ureaplasma is a group of tiny bacteria commonly found in the urogenital tracts of both men and women. They form part of the normal genital flora but can cause infections under certain conditions. Ureaplasma species, especially Ureaplasma urealyticum and Ureaplasma parvum, are linked to conditions such as urethritis, pelvic inflammatory disease (PID), and infertility. Although they can be sexually transmitted, they are not always strictly classified as STIs.
Fennel intolerance is a condition in which the body struggles to digest fennel, an aromatic herb frequently used in Mediterranean and Indian cooking. It generally causes stomach discomfort and is different from a fennel allergy, which involves an immune response and may lead to more serious symptoms. Those with fennel intolerance often face digestive problems after eating fennel or foods flavoured with fennel.
Tapeworms are intestinal parasites that can affect both humans and animals. These flat, segmented worms can grow to significant lengths. They usually enter the body through the consumption of contaminated food or water. While tapeworm infections may sometimes show no symptoms, they can also cause stomach discomfort, diarrhea, and weight loss.
Threadworms (Strongyloides stercoralis) are tiny intestinal parasites that cause strongyloidiasis. They may not show symptoms or can cause a range of issues, including stomach pain, diarrhea, and in severe cases, malabsorption. Transmission happens when skin comes into contact with contaminated soil. These worms are unique because they can reproduce inside the host, leading to persistent, long-term infections.
Dill intolerance is a condition in which individuals find it difficult to digest dill, an herb commonly used for its distinctive flavour in pickles, salads, and seafood dishes. It usually causes gastrointestinal discomfort and is different from a dill allergy, which triggers an immune response and can result in more severe symptoms. People with dill intolerance typically experience digestive problems after consuming dill or foods containing it.
Beef intolerance is a condition where the digestive system responds negatively to consuming beef. Unlike a beef allergy, which causes an immune reaction and can be more serious, beef intolerance involves difficulties in digesting or processing certain elements of beef.
ATP1B3 (ATPase Na⁺/K⁺ Transporting Subunit Beta 3): ATP1B3 is a component of the Na⁺/K⁺ ATPase pump, which maintains cellular ion gradients essential for regulating cell volume and electrical activity. This subunit affects the pump’s function and specificity, aiding muscle activity, nerve transmission, and kidney filtration. Changes in ATP1B3 may be associated with cardiovascular and neurological conditions.
Urine density, also known as urine specific gravity, measures the concentration of solutes in urine. It reflects the kidneys' ability to concentrate or dilute urine and acts as an indicator of hydration status and kidney function. Although normal values may vary, deviations can signal dehydration, overhydration, or underlying kidney problems.
Lamb intolerance is a condition where the body struggles to digest lamb meat, causing gastrointestinal discomfort. Unlike a lamb allergy, which triggers an immune system response and can result in severe symptoms, lamb intolerance generally leads to digestive problems after eating lamb.
HORMAD1 (HORMA Domain-Containing Protein 1): HORMAD1 is a gene that encodes a protein containing a HORMA domain, which is involved in chromosome dynamics during meiosis. It plays a key role in regulating homologous chromosome pairing and segregation, contributing to genetic diversity and proper gamete formation.
Halibut intolerance is a condition where individuals face difficulty digesting halibut, a type of flatfish commonly enjoyed as a seafood delicacy. This can cause discomfort in the digestive system. Halibut intolerance is different from a halibut allergy, which triggers an immune response and may result in more serious reactions. Those with halibut intolerance usually experience digestive symptoms after eating halibut or dishes that contain it.
Kynurenine is a key metabolite in the breakdown of the essential amino acid tryptophan. It serves as a precursor to several important compounds, including the neuroprotective kynurenic acid and the neurotoxic quinolinic acid, and plays a vital role in various physiological and pathological processes in the body.
Urinary nitrates are chemical compounds usually not found or present only in trace amounts in urine. Their presence may indicate a bacterial infection, such as a urinary tract infection (UTI), because certain bacteria can convert urinary nitrite into nitrate. Nitrate testing is a common diagnostic method used to detect UTIs.
HPRT1 (Hypoxanthine Phosphoribosyltransferase 1): HPRT1 is an essential gene involved in purine metabolism. It catalyses the conversion of hypoxanthine to inosine monophosphate (IMP), a key precursor for purine nucleotide synthesis. Mutations in HPRT1 can result in Lesch-Nyhan syndrome, a rare genetic disorder associated with neurological and behavioural abnormalities.
SERTAD2 (SERTA Domain Containing 2): SERTAD2 is a multifunctional protein containing a SERTA domain, associated with cell cycle regulation. Aside from its role in cell cycle progression, SERTAD2 is involved in key cellular processes such as DNA replication, DNA repair, and chromatin remodeling. Its interactions with various transcription factors and co-regulators make it a crucial regulator of gene expression.
Grass pollen allergies indicate sensitivity to different grass species — including sweet vernal, orchard grass, common reed, and bent grass. These allergens can greatly impact individuals prone to allergic reactions, affecting respiratory health, causing eye irritation, and influencing overall well-being. Understanding these allergies, identifying symptoms, and implementing effective management techniques can help alleviate discomfort and enhance quality of life during peak pollen seasons.
Carrot allergy is an allergic reaction caused by certain proteins found in carrots. Although rare, it can affect people who are sensitive to particular plant-based foods. It is commonly associated with Oral Allergy Syndrome (OAS), especially in individuals allergic to birch or mugwort pollen, due to cross-reactive proteins.
KMO (Kynurenine 3-monooxygenase) is an enzyme that plays a key role in the kynurenine pathway, responsible for metabolising the amino acid tryptophan. It helps regulate the balance of metabolites within this pathway, influencing processes that can affect brain health. KMO activity has been linked to neurological conditions such as Alzheimer’s disease, Huntington’s disease, and schizophrenia.
PKP4 (Plakophilin 4): PKP4 is a protein that supports cell–cell adhesion, particularly within desmosomes — specialised structures that link neighbouring cells. It helps maintain tissue integrity, especially in areas exposed to mechanical stress. Mutations in PKP4 can disrupt this function, contributing to certain skin and cardiac disorders.
Grape intolerance is a condition in which the body finds it difficult to digest grapes, causing gastrointestinal discomfort. Unlike a grape allergy, which triggers an immune response and can lead to severe reactions, grape intolerance usually results in digestive symptoms after consuming grapes or products derived from grapes.
Urobilinogen in urine is a by-product of red blood cell breakdown, formed in the intestines from bilirubin and excreted in the urine. It is normally found in low concentrations and serves as an indicator of liver function and health. Abnormally high or low levels may indicate liver disease or blood-related conditions.
THADA (Thyroid Adenoma Associated): THADA is a gene linked to thyroid adenomas, a type of thyroid tumor. It may contribute to thyroid tumorigenesis and has been implicated in the development of thyroid cancer, making it a key subject of ongoing research in thyroid diseases.
Pancreatic elastase is an enzyme produced by the pancreas that plays a crucial role in protein digestion. Measuring its levels in stool can offer valuable insights into pancreatic function. Since the enzyme remains stable in fecal matter, it serves as a reliable marker for evaluating the exocrine function of the pancreas, particularly in diagnosing pancreatic insufficiency.
SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is a protein involved in membrane trafficking processes, particularly in the recycling of membrane proteins and exocytosis. It plays a key role in cellular communication and the transport of substances within cells, which is essential for various cellular functions.
Allergies to seafood such as plaice, anchovy, and Alaska pollock happen when the immune system responds to certain proteins in these fish. These reactions can lead to various symptoms and may have a significant impact on diet and lifestyle. It is important for those with these allergies to understand the triggers, symptoms, and management strategies.
Chicken intolerance is a condition where the body struggles to digest chicken, causing digestive discomfort. Unlike a chicken allergy, which activates the immune system and can result in quicker and more severe reactions, chicken intolerance usually causes gastrointestinal symptoms after eating.
COL11A1 (Collagen Type XI Alpha 1 Chain): COL11A1 is a gene that encodes an essential component of type XI collagen, which is crucial for the structure and strength of connective tissue. Mutations in COL11A1 are associated with several connective tissue disorders, including certain types of Ehlers-Danlos syndrome and Stickler syndrome.
The quantitative determination of nitrogen (N) is a laboratory test that measures nitrogen levels in bodily excretions, typically urine or feces, to assess protein digestion and absorption. This test is crucial for evaluating nutritional status, especially in clinical settings where protein-energy malnutrition or imbalances might be a concern. It provides valuable insights into metabolic functions linked to protein turnover and helps diagnose conditions affecting protein metabolism, including kidney disease, malabsorption syndromes, and certain metabolic disorders.
Dientamoeba fragilis is a unicellular parasite found in the human gastrointestinal tract. It is associated with dientamoebiasis, a condition that can cause a range of digestive symptoms. Its precise method of transmission and its role in causing disease are still being studied.
SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5 is a protein, also known as OCTN2, that functions as a key carnitine transporter in the body. It facilitates the cellular uptake of carnitine, a compound essential for moving fatty acids into mitochondria for energy production. This process is critical for energy metabolism in tissues such as the heart and muscles. Mutations in the SLC22A5 gene can result in primary carnitine deficiency, a condition marked by muscle weakness and cardiomyopathy, highlighting its vital role in metabolic health and energy balance.
Cucumber intolerance is a condition where the body struggles to digest cucumber, often leading to stomach discomfort. Unlike a cucumber allergy, which prompts an immune response and can cause more serious reactions, cucumber intolerance usually results in digestive issues after eating it.
Baker’s yeast intolerance is a condition where individuals find it difficult to digest baker’s yeast, often leading to gastrointestinal discomfort. Unlike a baker’s yeast allergy, which causes an immune reaction and can result in more severe symptoms, intolerance is confined to digestive problems. Symptoms usually appear after consuming foods or beverages containing baker’s yeast.
ATXN1 (Ataxin 1): ATXN1 is a gene that encodes the ataxin-1 protein, which plays a role in neuronal function. Mutations in ATXN1, particularly those involving expanded CAG repeats, cause spinocerebellar ataxia type 1 (SCA1) — a neurodegenerative disorder characterised by progressive loss of motor coordination and balance. Studying ATXN1 is crucial for understanding SCA1 and developing potential treatments for related neurological disorders.
GPR139 is a G protein-coupled receptor (GPCR) primarily expressed in the central nervous system, especially in areas involved in regulating neurotransmitter systems and neuronal activity. It is believed to modulate neurotransmission, particularly dopamine and glutamate signaling, and may function as an inhibitory receptor by decreasing cAMP levels and reducing neuronal excitability.
AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a crucial protein that regulates autophagy, the process through which cells break down and recycle their own components. It aids cell survival under stress by collaborating with BECN1 (Beclin 1) to trigger the formation of autophagosomes. Proper functioning of AMBRA1 is vital for maintaining cellular homeostasis, and its malfunction has been linked to developmental disorders and neurodegenerative diseases.
ALX4 (ALX Homeobox 4): ALX4 is a transcription factor that plays a crucial role in the development of the skull and limbs. Mutations in this gene are associated with craniofacial deformities and skeletal abnormalities, highlighting its significance in bone formation and morphogenesis.
APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that plays a crucial role in protein turnover by breaking down acetylated peptides. It helps in processing damaged or misfolded proteins, thereby maintaining protein homeostasis. Malfunctions in APEH can affect neurodegenerative processes and the body's response to oxidative stress.
SCARB1 (Scavenger Receptor Class B Member 1): SCARB1 is a protein that plays a crucial role in the selective uptake of cholesterol esters from high-density lipoprotein (HDL) particles. It is vital for lipid metabolism and reverse cholesterol transport. Variants in SCARB1 can influence cholesterol levels and have been associated with cardiovascular disease risk.
ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2): ALDH1A2 is an enzyme from the aldehyde dehydrogenase family that catalyses the oxidation of retinaldehyde to retinoic acid, the active form of vitamin A. This conversion plays a crucial role in developmental processes such as embryogenesis, tissue patterning, and organ formation, as it regulates gene expression and cell differentiation through retinoic acid signalling. ALDH1A2 is highly expressed in developing tissues, including limb buds, the central nervous system, and sensory organs.
Palladium is a metal used in electronics, jewellery, and dental materials. While useful in various industries, high levels of inhalation or ingestion can be toxic, particularly in occupational settings. Exposure may cause respiratory, skin, and digestive issues, and some individuals may develop allergic reactions such as dermatitis.
Alaska pollock intolerance is a condition where individuals find it difficult to digest Alaska pollock, a type of fish, leading to gastrointestinal discomfort. Unlike an allergy to Alaska pollock, which triggers an immune response and may cause more severe symptoms, intolerance generally results in digestive problems after eating it.
Chlamydia is a common sexually transmitted infection (STI) caused by the bacterium Chlamydia trachomatis. It can affect both men and women and may cause serious, lasting damage to a woman’s reproductive system, increasing the risk of infertility. In some cases, it can also lead to a potentially life-threatening ectopic pregnancy, where the pregnancy develops outside the womb.
KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is a protein that interacts with potassium channels, regulating their activity. It plays a vital role in cellular processes such as signal transduction and ion transport. Mutations in KCTD1 are linked to developmental disorders, especially those affecting the skin and hair.
Anti-Müllerian Hormone (AMH) is a hormone produced by the ovaries that indicates a woman’s ovarian reserve, reflecting the number of eggs remaining. It is commonly used to assess fertility potential and is an important marker in reproductive medicine.