Analysis of PMVK Gene (Mutation) in Porokeratosis of Mibelli by RT-qPCR (CAT#: STEM-MT-0143-LGZ)

Introduction

Also known as: PMK; PMKA; PMKASE; POROK1; HUMPMKI<br />This gene encodes a peroxidase, a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphovalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, the fifth step in the mevalonate pathway for isoprenoid biosynthesis. Mutations in this gene have been linked to certain types of osteoporosis, including diffuse superficial osteoporosis. Alternative splicing results in multiple transcript variants.