Recombinant Human Protoporphyrinogen oxidase (PPOX)

Uniprot Id

P50336

Target Species

Human

Target Name

PPOX

Target Full Name

Protoporphyrinogen oxidase

Target Function

Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.

Target Involvement

Variegate porphyria (VP)

Target Subcellular Location

Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.

Target Protein Families

Protoporphyrinogen oxidase family

Target Tissue Specificity

Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Target Research Area

Metabolism

Target Synonyms

MGC8485; PPO; PPOX; PPOX_HUMAN; Protoporphyrinogen oxidase; V290M; Variegate porphyria; VP

Target Background

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.