Entrez gene ID | | 4598 |
Official gene symbol | | MVK |
Full name | | mevalonate kinase |
Aliases | | ,FLJ96772,LRBP,MK,MVLK, |
Gene summary | | 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. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12q24 |
Gene position | | 110011500 - 110035071 Map Viewer |
Gene orientation | | plus |
Gene size | | 23572 bp |
Gene sequence |
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OMIM ID | | 251170 |
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