Analysis of PPOX Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0595-LGZ)

Introduction

Official Full Name: protoporphyrinogen oxidase
Also known as: VP; PPO; V290M
This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified.