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
No community annotations yet for PPOX.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.