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Literature summary for 1.3.3.3 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)

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

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

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

Metals/Ions

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

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
patients with hereditary coproporphyria
-
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
coproporphyrinogen III oxidase
-
Homo sapiens
CPOX
-
Homo sapiens

General Information

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