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ppox

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Official Full Name
protoporphyrinogen oxidase
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.
Synonyms
PPOX; protoporphyrinogen oxidase; variegate porphyria , VP; PPO; VP; V290M; MGC8485; zgc:123252; mno; montalcino

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