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DefinitionThis section has been translated automatically.
MVK gene (MVK stands for mevalonate kinase) is a protein-coding gene located on chromosome 12q24.11. The protein encoded by the MVK gene is the peroxisomal enzyme mevalonate kinase.
MVK catalyzes the phosphorylation of mevalonate to mevalonate-5-phosphate. This is a key step in isoprenoid and cholesterol biosynthesis.
Mevalonate kinase deficiency caused by mutation of this gene leads to mevalonic aciduria, a disease characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile seizures .
Mutations in this gene cause
- Hyper-IgD syndrome, which belongs to the monogenic, autoinflammatory periodic fever syndromes (see auto-inflammatory syndromes below), diseases characterized by recurrent fever episodes in conjunction with lymphadenopathy, arthralgia, gastrointestinal upset and exanthema.
- different disseminated variants of superficial disseminated actinic porokeratosis (disseminated, actinic, superficial, POROK 2,3 and 7).
LiteratureThis section has been translated automatically.
- Li L et al (2021) Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis. Clin Chim Acta 523:441-445.
- 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.
- Zhang Z et al. (2015) Genomic variations of the mevalonate pathway in porokeratosis. eLife 4: e06322.
