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Literature summary for 1.3.3.3 extracted from

  • Loskove, Y.; Yasuda, M.; Chen, B.; Nazarenko, I.; Cody, N.; Desnick, R.J.
    Acute hepatic porphyrias Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations (2019), Mol. Genet. Metab., 128, 352-357 .
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
A174T the mutation is associated with hepatic porphyrias Homo sapiens
C357T the mutation is associated with hepatic porphyrias Homo sapiens
delL311/delY312 the mutation is associated with hepatic porphyrias Homo sapiens
G65S the mutation is associated with hepatic porphyrias Homo sapiens
Gln221GlufsX10 the mutation is associated with hepatic porphyrias Homo sapiens
L35H the mutation is associated with hepatic porphyrias Homo sapiens
R262G the mutation is associated with hepatic porphyrias Homo sapiens
R332W the mutation is associated with hepatic porphyrias Homo sapiens
V16G the mutation is associated with hepatic porphyrias Homo sapiens
V209D the mutation is associated with hepatic porphyrias Homo sapiens
W73C the mutation is associated with hepatic porphyrias Homo sapiens

Localization

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

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 P36551
-
-

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
CPOX
-
Homo sapiens