CPOX

Chr 3ADAR

coproporphyrinogen oxidase

Also known as: COX, CPO, CPX, HARPO, HCP

NCBI Gene: 1371 ENSG00000080819 UniProt: P36551 OMIM: 612732

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

CoproporphyriaMIM #121300

ADAR

HarderoporphyriaMIM #618892

UniProtHereditary coproporphyria

Clinical highlights

Gene-disease validity (ClinGen)

CPOX-related hereditary coproporphyria · SDDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.54

LOEUF

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Mechanism

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GeneReview available — CPOX