Also known as
Coproporphyrinogen oxidase variant, CPO, CPOX
Overview
CPOX4 refers to a variant or isoform related to the CPOX (Coproporphyrinogen Oxidase) gene, which encodes an enzyme involved in heme biosynthesis. CPOX catalyzes the sixth step in the heme biosynthetic pathway, converting coproporphyrinogen III to protoporphyrinogen IX through oxidative decarboxylation. This reaction occurs in the mitochondrial intermembrane space and is essential for the production of heme, a crucial component of hemoglobin, myoglobin, cytochromes, and other heme-containing proteins. Heme is vital for oxygen transport, electron transfer, and various enzymatic reactions throughout the body. Mutations in CPOX can cause hereditary coproporphyria (HCP), a form of acute hepatic porphyria characterized by accumulation of porphyrin precursors and symptoms including abdominal pain, neurological manifestations, and photosensitivity. Understanding variants in CPOX-related genes is important for identifying individuals at risk for porphyria and for managing their condition through avoidance of triggers and appropriate medical interventions.
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