Western blot analysis of PPOX over-expressed 293 cell line, cotransfected with PPOX Validated Chimera RNAi ( Cat # H00005498-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with PPOX monoclonal antibody (M01), clone 2F10 (Cat # H00005498-M01 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
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