Literature summary for 4.2.1.75 extracted from

Bishop, D.F.; Johansson, A.; Phelps, R.; Shady, A.A.; Ramirez, M.C.; Yasuda, M.; Caro, A.; Desnick, R.J.
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions (2006), Am. J. Hum. Genet., 78, 645-658.

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Cloned(Commentary)

Cloned (Comment)	Organism
expression in Escherichia coli	Mus musculus

Protein Variants

Protein Variants	Comment	Organism
C73R	0.24% of wild-type activity, homozygous mice are fetal lethals	Mus musculus
V99A	5.9% of wild-type activity, homozygous mice are fetal lethals	Mus musculus
V99L	14.8% of wild-type activity	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	P51163	-	-

Synonyms

Synonyms	Comment	Organism
URO-synthase	-	Mus musculus
Uroporphyrinogen III synthase	-	Mus musculus

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Release 2023.1 (January 2023)