PPOX
PPOX, in a biomedical context, refers to the gene and the protein protoporphyrinogen oxidase. This mitochondrial enzyme is encoded by the PPOX gene in humans and other organisms, and it catalyzes a key oxidative step in heme biosynthesis: the conversion of protoporphyrinogen IX to protoporphyrin IX. The enzyme participates in the later stages of the tetrapyrrole pathway, just before the insertion of iron to form heme.
Functionally, protoporphyrinogen oxidase is a flavin-dependent oxidase located in the mitochondria, where it uses molecular oxygen
Genetically, pathogenic variants in PPOX are associated with variegate porphyria (VP), an autosomal dominant porphyria with
Diagnosis combines biochemical testing and genetic analysis. Elevated porphyrin metabolites in urine or feces can indicate