PMVK gene

Last updated on: 17.07.2023

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

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:

Associated metabolic pathways include cholesterol biosynthesis and steroid metabolism.

LiteratureThis section has been translated automatically.

  1. 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.

  2. Zhang Z et al. (2016) Genomic variations of the mevalonate pathway in porokeratosis. eLife 4: e06322, 2015.

Last updated on: 17.07.2023