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Gene information for MVK (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4598
Official gene symbolMVK
Full namemevalonate kinase
Aliases,FLJ96772,LRBP,MK,MVLK,
Gene summaryThis 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]
LocationChromosome: 12   Locus: 12q24
Gene position110011500 - 110035071  Map Viewer
Gene orientationplus
Gene size23572 bp
Gene sequence
OMIM ID251170