PPOX Back

protoporphyrinogen oxidase

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NCBI Description of PPOX
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.

Community Annotation of PPOX Add / Edit PPOX: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PPOX is highly significantly mutated in
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PPOX is significantly mutated in
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PPOX is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PPOX