Protein Name mevalonate kinase
Organism Homo sapiens
Gene ID 4598
Gene Symbol


UniProt Q03426 (KIME_HUMAN), B2RDU6 (B2RDU6_HUMAN), F5H8H2 (F5H8H2_HUMAN), B7Z301 (B7Z301_HUMAN)
Relationships Total Number of functionally related compound(s) : 138
Total Number of Articles : 151

mevalonate kinase

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

  • mevalonate kinase
  • LH receptor mRNA-binding protein
  • mevalonate kinase 1
Click to show/hide the synonyms