Protein Name protoporphyrinogen oxidase
Organism Homo sapiens
Gene ID 5498
Gene Symbol


UniProt P50336 (PPOX_HUMAN)
Relationships Total Number of functionally related compound(s) : 531
Total Number of Articles : 456

protoporphyrinogen oxidase

Gene 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]

  • protoporphyrinogen oxidase
  • PPO
  • V290M
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