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Literature summary for 4.1.1.37 extracted from

  • Christiansen, L.; Brons-Poulsen, J.; Horder, M.; Brock, A.; Petersen, N.E.
    Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations (2005), Scand. J. Clin. Lab. Invest., 65, 227-235.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
wild-type enzyme and mutants causing porphyria cutanea tarda, expression in Escherichia coli BL-21 Homo sapiens

Protein Variants

Protein Variants Comment Organism
A80S less than 12% of the specific activity of wild-type enzyme, Q38R-glutathione S-transferase fusion protein Homo sapiens
Q206X inactive mutant, Q38R-glutathione S-transferase fusion protein Homo sapiens
Q38R less than 0.2% of the specific activity of wild-type enzyme, Q38R-glutathione S-transferase fusion protein Homo sapiens
T160I 3.4% of the specific activity of wild-type enzyme, Q38R-glutathione S-transferase fusion protein Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
Danish patients with familial porphyria cutanea tarda
-

Purification (Commentary)

Purification (Comment) Organism
wild-type and mutant enzymes Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5-COOH-porphyrinogen I
-
Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
UroD
-
Homo sapiens