Literature summary for 3.7.1.2 extracted from

Labelle, Y.; Phaneuf, D.; Leclerc, B.; Tanguay, R.M.
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity (1993), Hum. Mol. Genet., 2, 941-946.

Search for more literature for 3.7.1.2

Application

Application	Comment	Organism
medicine	plays a role in hereditary tyrosinemia	Homo sapiens
medicine	plays a role in degradation pathway of phenylalanine and tyrosine	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in CV-1 transfected cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A134D	mutant with decrased enzyme activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
liver	-	Homo sapiens	-

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Release 2023.1 (January 2023)