Cloned (Comment) | Organism |
---|---|
gene CPO, located on chromosome 3q11.2, DNA and amino acid sequence determination and analysis, genotyping of an Italian population | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A203T | natural mutation due to single nucleotide substitution 607G>A, identified in a patient with hereditary coproporphyria | Homo sapiens |
G188W | a naturally occuring frameshift mutation p.Gly188TrpfsX45 in hereditary coproporphyria patient from Italian population, phenotype, overview | Homo sapiens |
G242C | natural mutation due to single nucleotide substitution 724G>T, identified in a patient with hereditary coproporphyria | Homo sapiens |
G242C | a naturally occuring missense mutation in hereditary coproporphyria patient from Italian population, phenotype, overview | Homo sapiens |
L398P | natural mutation due to single nucleotide substitution 1193T>C, identified in a patient with hereditary coproporphyria | Homo sapiens |
L398P | a naturally occuring missense mutation in hereditary coproporphyria patient from Italian population, phenotype, overview | Homo sapiens |
additional information | a duplication of a T in position 561 of the coding sequence, i.e.561dupT in exon 2 results in a frameshift that gives rise to a stop codon 45 residues downstream Glycine at position 188, i.e. p.Gly188TrpfsX45. Mutation identified in a patient with hereditary coproporphyria | Homo sapiens |
S245F | natural mutation due to single nucleotide substitution 734C>T, identified in a patient with hereditary coproporphyria | Homo sapiens |
S245F | a naturally occuring missense mutation in hereditary coproporphyria patient from Italian population, phenotype, overview | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mn2+ | is added to the assay at 10 mM | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
coproporphyrinogen III + O2 + 2 H+ | Homo sapiens | - |
protoporphyrinogen IX + 2 CO2 + 2 H2O | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patients with hereditary coproporphyria | - |
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
coproporphyrinogen III + O2 + 2 H+ | - |
Homo sapiens | protoporphyrinogen IX + 2 CO2 + 2 H2O | - |
? |
Synonyms | Comment | Organism |
---|---|---|
coproporphyrinogen III oxidase | - |
Homo sapiens |
CPOX | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
metabolism | CPOX is a mitochondrial enzyme in the heme biosynthetic pathway that catalyzes the conversion of coproporphyrinogen III to protoporphyrinogen IX | Homo sapiens |
additional information | hereditary coproporphyria is a disorder due to the reduced activity of coproporphyrinogen III oxidase, and is an autosomal dominant disease classified as acute hepatic porphyria, overview | Homo sapiens |
physiological function | CPOX is a mitochondrial enzyme in the heme biosynthetic pathway that catalyzes the conversion of coproporphyrinogen III to protoporphyrinogen IX | Homo sapiens |