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PPOX is 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.
Gene Name: | protoporphyrinogen oxidase |
Synonyms: | PPOX, PPO, Protoporphyrinogen oxidase, V290M, Variegate porphyria, VP |
Target Sequences: | NM_000309 NP_000300.1 P50336 |
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