DefinitionThis section has been translated automatically.
The PMVK gene (PMVK stands for phosphomevalonate kinase) is a protein-coding gene located on chromosome 1q21.3.
The PMVK gene encodes a peroxisomal enzyme that belongs to the family of ATP-dependent enzymes galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP). Alternative splicing results in multiple transcript variants.
The encoded protein catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to form mevalonate diphosphate and ADP, a key step in the mevalonic acid-mediated biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites. This is the fifth step in the mevalonate pathway of isoprenoid biosynthesis.
General informationThis section has been translated automatically.
Diseases associated with PMVK mutations include:
- porokeratosis 1 (porokeratosis mibelli)
- as well as various linear types.
Associated metabolic pathways include cholesterol biosynthesis and steroid metabolism.
LiteratureThis section has been translated automatically.
Vargas-Mora P et al (2020) Porokeratosis: A Review of its Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment. Actas Dermo-Sifiliográficas (English Edition) 111: 545-560.
- Zhang Z et al. (2016) Genomic variations of the mevalonate pathway in porokeratosis. eLife 4: e06322, 2015.
