Literature summary for 3.2.1.45 extracted from

de la Mata, M.; Cotan, D.; Oropesa-Avila, M.; Garrido-Maraver, J.; Cordero, M.D.; Villanueva Paz, M.; Delgado Pavon, A.; Alcocer-Gomez, E.; de Lavera, I.; Ybot-Gonzalez, P.; Paula Zaderenko, A.; Ortiz Mellet, C.; Garcia Fernandez, J.M.; Sanchez-Alcazar, J.A.
Pharmacological chaperones and coenzyme Q10 treatment improves mutant beta-glucocerebrosidase activity and mitochondrial function in neuronopathic forms of Gaucher disease (2015), Sci. Rep., 5, 10903 .

Protein Variants

Protein Variants	Comment	Organism
L444P	the mutation is associated with Gaucher disease and results in disrupted enzyme folding in the endoplasmic reticulum and impaired post-endoplasmic reticulum trafficking	Homo sapiens

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

Organism	UniProt	Comment	Textmining
Homo sapiens	P04062	-	-

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-methylumbelliferyl beta-D-glucopyranoside + H2O	-	Homo sapiens	4-methylumbelliferone + beta-D-glucopyranose	-	?

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Release 2023.1 (January 2023)