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Literature summary extracted from

  • Aurizi, C.; Lupia Palmieri, G.; Barbieri, L.; Macri, A.; Sorge, F.; Usai, G.; Biolcati, G.
    Four novel mutations of the coproporphyrinogen III oxidase gene (2009), Cell. Mol. Biol., 55, 15-18.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.3.3 gene CPO, located on chromosome 3q11.2, DNA and amino acid sequence determination and analysis, genotyping of an Italian population Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.3.3 A203T natural mutation due to single nucleotide substitution 607G>A, identified in a patient with hereditary coproporphyria Homo sapiens
1.3.3.3 G188W a naturally occuring frameshift mutation p.Gly188TrpfsX45 in hereditary coproporphyria patient from Italian population, phenotype, overview Homo sapiens
1.3.3.3 G242C natural mutation due to single nucleotide substitution 724G>T, identified in a patient with hereditary coproporphyria Homo sapiens
1.3.3.3 G242C a naturally occuring missense mutation in hereditary coproporphyria patient from Italian population, phenotype, overview Homo sapiens
1.3.3.3 L398P natural mutation due to single nucleotide substitution 1193T>C, identified in a patient with hereditary coproporphyria Homo sapiens
1.3.3.3 L398P a naturally occuring missense mutation in hereditary coproporphyria patient from Italian population, phenotype, overview Homo sapiens
1.3.3.3 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
1.3.3.3 S245F natural mutation due to single nucleotide substitution 734C>T, identified in a patient with hereditary coproporphyria Homo sapiens
1.3.3.3 S245F a naturally occuring missense mutation in hereditary coproporphyria patient from Italian population, phenotype, overview Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.3.3.3 mitochondrion
-
 Homo sapiens 5739
-

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
1.3.3.3 Mn2+ is added to the assay at 10 mM Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.3.3.3 coproporphyrinogen III + O2 + 2 H+ Homo sapiens
-
 protoporphyrinogen IX + 2 CO2 + 2 H2O
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.3.3.3 Homo sapiens
-
 patients with hereditary coproporphyria
-
1.3.3.3 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.3.3 coproporphyrinogen III + O2 + 2 H+
-
 Homo sapiens protoporphyrinogen IX + 2 CO2 + 2 H2O
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.3.3.3 coproporphyrinogen III oxidase
-
 Homo sapiens
1.3.3.3 CPOX
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.3.3.3 metabolism CPOX is a mitochondrial enzyme in the heme biosynthetic pathway that catalyzes the conversion of coproporphyrinogen III to protoporphyrinogen IX Homo sapiens
1.3.3.3 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
1.3.3.3 physiological function CPOX is a mitochondrial enzyme in the heme biosynthetic pathway that catalyzes the conversion of coproporphyrinogen III to protoporphyrinogen IX Homo sapiens