rs141236816
This variant is located in the CPOX gene.
▶ClinVar annotation
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]
View all CPOX variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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