Aliases for PPOX Gene
External Ids for PPOX Gene
Previous HGNC Symbols for PPOX Gene
Previous GeneCards Identifiers for PPOX Gene
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]
GeneCards Summary for PPOX Gene
PPOX (Protoporphyrinogen Oxidase) is a Protein Coding gene. Diseases associated with PPOX include Variegate Porphyria and Constipation. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxygen-dependent protoporphyrinogen oxidase activity. An important paralog of this gene is MAOB.
UniProtKB/Swiss-Prot Summary for PPOX Gene
Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.