PMVK Human

PMVK catalyzes the ATP-dependent phosphorylation of mevalonate 5-phosphate to produce mevalonate 5-diphosphate and ADP. This reaction is the fifth step in the mevalonate pathway, a critical pathway for the biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites . The enzyme’s activity is essential for the production of cholesterol and other sterols, which are vital components of cell membranes and precursors for steroid hormones and bile acids .

Phosphomevalonate kinase is a cytosolic enzyme that can be highly expressed in various tissues, including the heart, skeletal muscle, liver, pancreas, and kidney. It is expressed at lower levels in the brain, lung, and placenta . The enzyme is induced by sterol, highlighting its role in cholesterol biosynthesis .

Mutations in the PMVK gene have been linked to certain types of porokeratosis, including disseminated superficial porokeratosis and linear porokeratosis . These conditions are characterized by abnormal keratinization of the skin, leading to the formation of distinctive, ridge-like lesions.

Recombinant human phosphomevalonate kinase is produced using various expression systems, such as E. coli, to facilitate research and therapeutic applications. The recombinant protein is typically tagged with a His-tag to aid in purification and is supplied in a solution containing Tris-HCl, NaCl, DTT, and glycerol . The recombinant enzyme retains its bioactivity and is used in various biochemical assays to study its function and role in the mevalonate pathway .