PPOX

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. [provided by RefSeq, Jul 2008]

Description

protoporphyrinogen oxidase

Protein family

Enzymes, Secreted proteins predicted by MDSP

Chromosome

1:q23.3 (161136200 - 161147803)

Ensembl ID

ENSG00000143224  (ver. 69.37)

Orthologs

Mouse Ppox: ENSMUSG00000062729

Human splice variants
Mouse splice variants