How can the answer be improved?MVK mevalonate kinase Also known as: MK; LRBP; MVLK; POROK3 • • • Summary This gene encodes the peroxisomal enzyme mevalonate kinase.
Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2014].. 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.. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.
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