PMVK
Sign in to saveAlso known as HUMPMKI, PMK, PMKA, PMKASE, POROK1, phosphomevalonate kinase
protein-coding gene in the species Homo sapiens
Gene data
PMVK- Name
- phosphomevalonate kinase
- Type
- protein-coding
- Position
- 154,924,732–154,937,008 (−)
- Aliases
- HUMPMKI, PMK, PMKA, PMKASE, POROK1
- Ensembl
- ENSG00000163344
- RefSeq RNA
- NM_001323011.3, NM_001323012.3, NM_001348696.2, NM_006556.4
- RefSeq protein
- NP_001309940.1, NP_001309941.1, NP_001335625.1, NP_006547.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
phosphomevalonate kinase
- Symbol
- PMVK
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:154,924,732-154,937,008
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI