rs121917866

This is a variant in the CPOX gene that changes a arginine to an tryptophan.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters5 publications

Coproporphyria; Hereditary coproporphyria (HCP)

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About CPOX

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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