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Literature summary extracted from

  • To-Figueras, J.; Phillips, J.; Gonzalez-Lopez, J.M.; Badenas, C.; Madrigal, I.; Gonzalez-Romaris, E.M.; Ramos, C.; Aguirre, J.M.; Herrero, C.
    Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene (2011), Br. J. Dermatol., 165, 499-505.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.1.1.37 expressed in Escherichia coli Rosetta2 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.1.1.37 G170D the missense mutation is associated with hepatoerythropoietic porphyria and shows erythrocyte UROD activity of 42% of normal. The recombinant UROD protein shows a relative activity of 17% and 60% of wild type to uroporphyrinogen I and III respectively Homo sapiens
4.1.1.37 G281E the mutation is associated with hepatoerythropoietic porphyria Homo sapiens

Organism

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

Purification (Commentary)

EC Number Purification (Comment) Organism
4.1.1.37
-
 Homo sapiens

Source Tissue

EC Number Source Tissue Comment Organism Textmining
4.1.1.37 erythrocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.1.1.37 uroporphyrinogen I
-
 Homo sapiens coproporphyrinogen I + 4 CO2
-
 ?
4.1.1.37 Uroporphyrinogen III
-
 Homo sapiens Coproporphyrinogen III + 4 CO2
-
 ?

Synonyms

EC Number Synonyms Comment Organism
4.1.1.37 UroD
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
4.1.1.37 malfunction hepatoerythropoietic porphyria results from a deficiency of uroporphyrinogen decarboxylase Homo sapiens