Aliases for PMVK Gene
External Ids for PMVK Gene
Previous GeneCards Identifiers for PMVK Gene
This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
GeneCards Summary for PMVK Gene
PMVK (Phosphomevalonate Kinase) is a Protein Coding gene. Diseases associated with PMVK include Porokeratosis 1, Multiple Types and Porokeratosis. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include phosphomevalonate kinase activity.