mevalonate kinase


mev·a·lo·nate ki·nase

[MIM*251170] an enzyme that catalyzes the reaction of mevalonate and ATP to form ADP and mevalonate 5-phosphate; this enzyme participates in the pathway for steroid synthesis; a deficiency of this enzyme will lead to mevalonic aciduria and lack of development.

MVK

A gene on chromosome 12q24 that encodes mevalonate kinase, which plays a regulatory role in cholesterol biosynthesis.
Molecular pathology
Defects in MVK cause mevalonic aciduria and hyperimmunoglobulinaemia D, and periodic fever syndrome.