Aliases for MVK Gene
External Ids 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 Metabolism and Metabolism. 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