MVK

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]

Description

mevalonate kinase

Protein family

Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

12:q24.11 (109573255 - 109598117)

Ensembl ID

ENSG00000110921  (ver. 84.38)

Orthologs

Mouse Mvk: ENSMUSG00000041939

UniProt

Q03426

neXtProt

NX_Q03426

Human splice variants
Mouse splice variants