Aliases for MVK Gene
External Ids for MVK Gene
Previous GeneCards Identifiers for MVK Gene
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]
GeneCards Summary for MVK Gene
MVK (Mevalonate Kinase) is a Protein Coding gene. Diseases associated with MVK include mevalonic aciduria and hyper-igd syndrome. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Regulation of Cholesterol Biosynthesis by SREBP (SREBF). GO annotations related to this gene include identical protein binding and mevalonate kinase activity.
UniProtKB/Swiss-Prot for MVK Gene
May be a regulatory site in cholesterol biosynthetic pathway