PMVK, Official Symbol PMVKprovided by HGNC Official Full Name phosphomevalonate kinaseprovided by HGNC Primary source HGNC:HGNC:9141 See related Ensembl:ENSG00000163344 MIM:607622; AllianceGenome:HGNC:9141 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PMK; PMKA; PMKASE; POROK1; HUMPMKI Summary 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] Expression Ubiquitous expression in kidney (RPKM 26.9), liver (RPKM 17.8) and 25 other tissues See more Orthologs mouse all