Recombinant Human Phosphomevalonate kinase (PMVK)

Uniprot Id

Q15126

Target Species

Human

Target Name

PMVK

Target Full Name

Phosphomevalonate kinase

Target Function

Catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to produce mevalonate diphosphate and ADP, a key step in the mevalonic acid mediated biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites.

Target Involvement

Porokeratosis 1, multiple types (POROK1)

Target Subcellular Location

Cytoplasm, cytosol.

Target Tissue Specificity

Heart, liver, skeletal muscle, kidney, and pancreas. Lower level in brain, placenta and lung.

Target Synonyms

hPMK; HUMPMKI; OTTHUMP00000035546; Phosphomevalonate kinase; PMK; PMK PEN; PMKA; PMKase; PMKI; PMKPEN; PMVK; PMVK_HUMAN

Target Background

This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants.