Biomarkers
Discover all biomarkers in precision medicine
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Discover all biomarkers in precision medicine
Discover all 95 biomarkers in precision medicine
Cardiovascular disease
Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor
Apolipoprotein B is a major protein constituent of chylomicr...
Pheochromocytoma
This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]
This gene encodes a component of a ubiquitination complex. T...
Diabetes Mellitus Type 2
Quercetin is a flavonoid, a type of polyphenolic compound, widely found in various fruits, vegetables, and beverages such as apples, onions, berries, and tea. Its chemical structure consists of a 3,5,7-trihydroxyflavone backbone with additional hydroxyl groups at the 3', 4', and 5' positions, making it a pentahydroxyflavone. This structure contributes to its potent antioxidant properties, allowing it to neutralize free radicals and reduce oxidative stress in biological systems. Quercetin is primarily recognized for its antioxidant activity, which plays a crucial role in protecting cells from damage caused by reactive oxygen species (ROS). This antioxidative capacity is beneficial for reducing inflammation and potentially lowering the risk of chronic diseases such as cardiovascular disease and certain cancers. Quercetin belongs to the larger group of chemicals known as flavonols, which are a subclass of flavonoids widely distributed in the plant kingdom. This biomarker is naturally produced by plants as part of their defense mechanism against pathogens, UV radiation, and herbivores. It is commonly found in the outer layers of many fruits and vegetables, contributing to their color and health benefits. Quercetin's medicinal uses are extensive; it has been studied for its potential to alleviate allergy symptoms, reduce blood pressure, improve endurance, and enhance overall cardiovascular health. Additionally, it is being explored for its anti-carcinogenic properties and its ability to modulate immune function. In industrial applications, quercetin is utilized as a dietary supplement and in functional foods due to its health-promoting properties. The presence of quercetin in human biological samples, such as plasma and urine, serves as an indicator of dietary intake of flavonoid-rich foods. Elevated levels of quercetin in the human body are associated with a diet high in fruits and vegetables, reflecting a potentially lower risk of oxidative stress-related diseases. (PMID: 9925128)
Quercetin is a flavonoid, a type of polyphenolic compound, w...
Hemochromatosis
Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation (By similarity)
Transferrins are iron binding transport proteins which can b...
Purine Nucleoside Phosphorylase Deficiency
Pyridoxal 5'-phosphate, also known as PLP or phosphopyridoxal, belongs to the class of organic compounds known as pyridoxals and derivatives. Pyridoxals and derivatives are compounds containing a pyridoxal moiety, which consists of a pyridine ring substituted at positions 2,3,4, and 5 by a methyl group, a hydroxyl group, a carbaldehyde group, and a hydroxymethyl group, respectively. Pyridoxal 5'-phosphate is the active form of vitamin B6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (pyridoxamine). Pyridoxal-phosphate is also a cofactor of many enzymatic reactions. It is the active form of vitamin B6 which comprises three natural organic compounds, pyridoxal, pyridoxamine and pyridoxine.
Pyridoxal 5'-phosphate, also known as PLP or phosphopyridoxa...
Addison's DiseaseAdrenoleukodystrophy
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
The protein encoded by this gene is a member of the superfam...
Liver Disease
Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters
Esterase with broad substrate specificity. Contributes to th...
Thyroid Carcinoma
Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3) (PubMed:17532758, PubMed:32025030). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen (PubMed:32025030). Following TG re-internalization and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream (PubMed:32025030). One dimer produces 7 thyroid hormone molecules (PubMed:32025030)
Acts as a substrate for the production of iodinated thyroid ...
Autism Spectrum Disorder
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
This gene is a member of Ser/Thr protein kinase family and e...
Cardiovascular disease
This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
This gene encodes a homodimeric glycoprotein that hydrolyses...
Down Syndrome
Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties
Binds copper, nickel, and fatty acids as well as, and biliru...
PTEN Hamartoma Tumor Syndrome
This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
This gene was identified as a tumor suppressor that is mutat...