Literature summary for 3.2.1.22 extracted from

Citro, V.; Pena-Garcia, J.; den-Haan, H.; Perez-Sanchez, H.; Del Prete, R.; Liguori, L.; Cimmaruta, C.; Lukas, J.; Cubellis, M.V.; Andreotti, G.
Identification of an allosteric binding site on human lysosomal alpha-galactosidase opens the way to new pharmacological chaperones for Fabry disease (2016), PLoS ONE, 11, e0165463 .

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Protein Variants

Protein Variants	Comment	Organism
A230T	6 mM 2,6-dithiopurine promotes the maturation of the mutant enzyme	Homo sapiens
A37T	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens
C172G	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens
G360C	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens
L300F	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens
M42T	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens
M42V	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens
P40S	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens
Q280K	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens
R118C	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens
S126C	2,6-dithiopurine has no effect on this mutant enzyme	Homo sapiens

General Stability

General Stability	Organism
the enzyme unfolds at 2.7 M urea in the absence of 2,6-dithiopurine, and at 3 M urea in the presence of 2,6-dithiopurine. 2,6-dithiopurine is able to stabilize the enzyme against thermal and urea-induced denaturation	Homo sapiens

Inhibitors

Inhibitors	Comment	Organism	Structure
1-deoxygalactonojirimycin	1% residual activity at 0.001 mM	Homo sapiens
additional information	not inhibited by 2,6-dithiopurine	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
lysosome	-	Homo sapiens	5764	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P06280	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-methylumbelliferyl alpha-D-galactopyranoside + H2O	-	Homo sapiens	4-methylumbelliferone + alpha-D-galactopyranose	-	?

Subunits

Subunits	Comment	Organism
?	x * 46000, mature enzyme, SDS-PAGE	Homo sapiens

Synonyms

Synonyms	Comment	Organism
AGal	-	Homo sapiens
Fabrazyme	commercial preparation	Homo sapiens
Genzyme	commercial preparation	Homo sapiens

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Release 2023.1 (January 2023)