PPOX, Official Symbol PPOXprovided by HGNC Official Full Name protoporphyrinogen oxidaseprovided by HGNC Primary source HGNC:HGNC:9280 See related Ensembl:ENSG00000143224 MIM:600923; AllianceGenome:HGNC:9280 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VP; PPO; VPCO; V290M Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 6.3), skin (RPKM 3.4) and 25 other tissues See more Orthologs mouse all