Literature summary for 3.2.1.22 extracted from

Park, J.Y.; Kim, G.H.; Kim, S.S.; Ko, J.M.; Lee, J.J.; Yoo, H.W.
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease (2009), Exp. Mol. Med., 41, 1-7.

Search for more literature for 3.2.1.22

Activating Compound

Activating Compound	Comment	Organism	Structure
1-deoxygalactonojirimycin	acts as a chemical chaperone and enhances catalytic activity and protein expression in milder mutations associated with the atypical form of Fabry disease	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in COS-7 cell	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
C142W	mutation isolated in patient with Fabry disease. 1-Deoxygalactonojirimycin has no significant effect on catalytic activity	Homo sapiens
D231G	mutation isolated in patient with Fabry disease. Protein expression is similar to wild-type, but mutant has no catalytic activity. 1-Deoxygalactonojirimycin has no significant effect on catalytic activity	Homo sapiens
D266N	mutation isolated in patient with Fabry disease. 1-Deoxygalactonojirimycin has no significant effect on catalytic activity	Homo sapiens
E66Q	mutation isolated in patient with Fabry disease. Protein expression is similar to wild-type, activity is about 40% of wild-type	Homo sapiens
F113L	mutation isolated in patient with Fabry atypical form of disease. 1-Deoxygalactonojirimycin enhances mutant catalytic activity	Homo sapiens
I91T	mutation isolated in patient with atypical form of Fabry disease. 1-Deoxygalactonojirimycin enhances mutant catalytic activity	Homo sapiens
M42V	mutation isolated in patient with Fabry disease. 1-Deoxygalactonojirimycin enhances mutant catalytic activity	Homo sapiens
R112C	mutation isolated in patient with Fabry disease. 1-Deoxygalactonojirimycin enhances mutant catalytic activity	Homo sapiens
S297F	mutation isolated in patient with Fabry disease. 1-Deoxygalactonojirimycin has no significant effect on catalytic activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with Fabry disease	-

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Release 2023.1 (January 2023)