Literature summary for 4.1.1.37 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.

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Cloned(Commentary)

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

Protein Variants

Protein Variants	Comment	Organism
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
G281E	the mutation is associated with hepatoerythropoietic porphyria	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Purification (Commentary)

Purification (Comment)	Organism
-	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
erythrocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

Synonyms	Comment	Organism
UroD	-	Homo sapiens

General Information

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

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Release 2023.1 (January 2023)