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Literature summary extracted from

  • Christiansen, L.; Ged, C.; Hombrados, I.; Brons-Poulsen, J.; Fontanellas, A.; de Verneuil, H.; Horder, M.; Petersen, N.E.
    Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT (1999), Hum. Mutat., 14, 222-232.
    View publication on PubMed

Application

EC Number Application Comment Organism
4.1.1.37 medicine malfunction of UROD is associated with porphyria cutanea tarda and hepatoerythropoietic porphyria, denaturing gradient gel electrophoresis technique DGGE assay presents genetic diagnosis method for screening patients from previously uncharacterized families, differential diagnosis between familial and sporadic cases of PCT Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.1.1.37
-
Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.1.1.37 C705A site-directed mutagenesis Homo sapiens
4.1.1.37 F229L site-directed mutagenesis Homo sapiens
4.1.1.37 M01T site-directed mutagenesis Homo sapiens
4.1.1.37 M324T site-directed mutagenesis Homo sapiens
4.1.1.37 T20C site-directed mutagenesis Homo sapiens
4.1.1.37 T989C site-directed mutagenesis Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
4.1.1.37 Uroporphyrinogen III Homo sapiens fifth step in heme biosynthetic pathway, four sequential decarboxylation reactions Coproporphyrinogen III + 4 CO2
-
?

Organism

EC Number Organism UniProt Comment Textmining
4.1.1.37 Homo sapiens
-
human
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.1.1.37 Uroporphyrinogen III
-
Homo sapiens Coproporphyrinogen III + 4 CO2
-
?
4.1.1.37 Uroporphyrinogen III fifth step in heme biosynthetic pathway, four sequential decarboxylation reactions Homo sapiens Coproporphyrinogen III + 4 CO2
-
?

Synonyms

EC Number Synonyms Comment Organism
4.1.1.37 UroD
-
Homo sapiens
4.1.1.37 uroporphyrinogen decarboxylase
-
Homo sapiens

Temperature Stability [°C]

EC Number Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
4.1.1.37
-
60
-
Homo sapiens