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Literature summary for 4.2.1.75 extracted from

  • Wiederholt, T.; Poblete-Gutierrez, P.; Gardlo, K.; Goerz, G.; Bolsen, K.; Merk, H.F.; Frank, J.
    Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria (2006), Physiol. Res., 55, S85-S92.
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Protein Variants

Protein Variants Comment Organism
additional information identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria. Identification of four different mutations: C73R, a hotspot mutation, the promoter mutation –86A, and two missense mutations, designated G236V and L237P, the latter one encounters in the homozygous state in one of the patients Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
hydroxymethylbilane Homo sapiens fourth enzyme in heme biosynthesis. Congenital erythropoietic porphyria is a very rare disease that is inherited as an autosomal recessive trait and results from a profound deficiency of uroporphyrinogen III cosynthase, the fourth enzyme in heme biosynthesis. The degree of severity of clinical symptoms mainly depends on the amount of residual uroporphyrinogen III cosynthase activity uroporphyrinogen-III + H2O
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
hydroxymethylbilane
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 Homo sapiens uroporphyrinogen-III + H2O
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 ?
hydroxymethylbilane fourth enzyme in heme biosynthesis. Congenital erythropoietic porphyria is a very rare disease that is inherited as an autosomal recessive trait and results from a profound deficiency of uroporphyrinogen III cosynthase, the fourth enzyme in heme biosynthesis. The degree of severity of clinical symptoms mainly depends on the amount of residual uroporphyrinogen III cosynthase activity Homo sapiens uroporphyrinogen-III + H2O
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 ?

Synonyms

Synonyms Comment Organism
Uroporphyrinogen III cosynthase
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 Homo sapiens