MVD Gene

The MVD gene (MVD stands for mevalonate pyrophosphate decarboxylase) is a protein-coding gene located on chromosome 16q24.2. The encoded protein is an enzyme, mevalonate pyrophosphate decarboxylase. This catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate (IPP). The substrate is decarboxylated and dehydrated with ATP consumption. The mevalonate (MVA) pathway leads to isopentenyl diphosphate (IPP), an important precursor for the biosynthesis of isoprenoids.

Diseases associated with mutations in the MVD gene include porokeratosis 7 (Qian W et al. 2021).

1. Luan J et al. (2011) A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. Hum Genet129: 329-334.
2. Qian W et al. (2021) Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review. Indian J Dermatol 66:126-131.
3. Taylor AMR et al (1973) Chromosomal instability associated with susceptibility to malignant disease in patients with porokeratosis of Mibelli. J Nat Cancer Inst 51: 371-378.
4. Zhang Z et al. (2015) Genomic variations of the mevalonate pathway in porokeratosis. eLife 4: e06322.