PMVK
Function
Catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to produce mevalonate diphosphate and ADP, a key step in the mevalonic acid mediated biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 2/3.
Tissue Specificity
Heart, liver, skeletal muscle, kidney, and pancreas. Lower level in brain, placenta and lung.
Cellular localization
- Cytoplasm
- Cytosol
Alternative names
PMKI, PMVK, Phosphomevalonate kinase, PMKase, hPMK