CPOX

The enzyme catalyzes the oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX as the sixth step in heme biosynthesis and is located in the mitochondrial intermembrane space. Mutations cause coproporphyria and harderoporphyria, which are acute hepatic porphyrias that can present with neurological crises, abdominal pain, and psychiatric symptoms. The gene shows both autosomal dominant and autosomal recessive inheritance patterns depending on the specific variant and resulting phenotype severity.