| 简介 | This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Diseases associated with MVK include Mevalonic Aciduria and Hyper-Igd Syndrome. Among its related pathways are superpathway of cholesterol biosynthesis and Metabolism of steroids. Gene Ontology (GO) annotations related to this gene include identical protein binding and mevalonate kinase activity. An important paralog of this gene is GALK1.
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:11278915, 18302342, 9325256, 9392419).
Farnesyl pyrophosphate and geranyl pyrophosphate inhibit mevalonate kinase activity by binding competitively at the ATP-binding sites
mevalonate kinase,homodimeric enzyme,peroxisomal,catalyzing an early step in the mevalonate pathway for the synthesis of isoprenoids and cholesterol,a structural component of membranes and precursor for bile acids and steroid hormones
Cytoplasm {ECO:0000269 PubMed:14730012}5
Peroxisome {ECO:0000250 UniProtKB:P17256}4
Quaternary structure:
Homodimer. |
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