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Literature summary for 4.2.1.75 extracted from

  • Bishop, D.F.; Schneider-Yin, X.; Clavero, S.; Yoo, H.W.; Minder, E.I.; Desnick, R.J.
    Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts (2010), Blood, 115, 1062-1069.
    View publication on PubMedView publication on EuropePMC

Localization

Localization Comment Organism GeneOntology No. Textmining
cytoplasm
-
Homo sapiens 5737
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphoblast
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
hydroxymethylbilane
-
Homo sapiens uroporphyrinogen III + H2O
-
?

Synonyms

Synonyms Comment Organism
URO-synthase
-
Homo sapiens
Uroporphyrinogen III synthase
-
Homo sapiens

Expression

Organism Comment Expression
Homo sapiens branchpoint sequence mutation markedly reduces the wild type transcript and enzyme activity down