PMVK gene

phosphomevalonate kinase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From NCBI Gene:

  • Porokeratosis of Mibelli

From UniProt:

Porokeratosis 1, multiple types (POROK1): A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. [MIM:175800]

Cytogenetic Location: 1q21.3, which is the long (q) arm of chromosome 1 at position 21.3

Molecular Location: base pairs 154,924,732 to 154,942,650 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q21.3, which is the long (q) arm of chromosome 1 at position 21.3
  • HUMPMKI
  • PMK
  • PMKA
  • PMKASE
  • POROK1