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]
Function:
Key enzyme in heme biosynthesis. Catalyzes the oxidative decarboxylation of propionic acid side chains of rings A and B of coproporphyrinogen III.
Subcellular Location:
Mitochondrion intermembrane space.
DISEASE:
Defects in CPOX are the cause of hereditary coproporphyria (HCP) [MIM:121300]. HCP is an acute hepatic porphyria and an autosomal dominant disease characterized by neuropsychiatric disturbances and skin photosensitivity. Biochemically, there is an overexcretion of coproporphyrin III in the urine and in the feces. HCP is clinically characterized by attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. The symptoms are generally manifested with rapid onset, and can be precipitated by drugs, alcohol, caloric deprivation, infection, endocrine factors or stress. A severe variant form is harderoporphyria, which is characterized by earlier onset attacks, massive excretion of harderoporphyrin in the feces, and a marked decrease of coproporphyrinogen IX oxidase activity.
Similarity:
Belongs to the aerobic coproporphyrinogen-III oxidase family.
SWISS:
P36551
Gene ID:
1371
Database links:
Entrez Gene: 1371 Human
Entrez Gene: 12892 Mouse
Entrez Gene: 304024 Rat
Omim: 612732 Human
SwissProt: P36551 Human
SwissProt: P36552 Mouse
SwissProt: Q3B7D0 Rat
Unigene: 476982 Human
Unigene: 291519 Mouse
Unigene: 19581 Rat
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