Literature summary for 3.2.1.45 extracted from

Wolf, P.; Alcalay, R.N.; Liong, C.; Cullen, E.; Pauciulo, M.W.; Nichols, W.C.; Gan-Or, Z.; Chung, W.K.; Faulkner, T.; Bentis, C.; Pomponio, R.J.; Ma, X.; Kate Zhang, X.; Keutzer, J.M.; Oliva, P.
Tandem mass spectrometry assay of beta-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay (2018), Mol. Genet. Metab., 123, 135-139 .

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Protein Variants

Protein Variants	Comment	Organism
A456P	the mutation is associated with Gaucher disease	Homo sapiens
L444P	the mutation is associated with Gaucher disease	Homo sapiens
N370S	the mutation is associated with Gaucher disease	Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
glucocerebroside + H2O	Homo sapiens	-	D-glucose + ceramide	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P04062	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-methylumbelliferyl beta-D-glucopyranoside + H2O	-	Homo sapiens	4-methylumbelliferone + beta-D-glucopyranose	-	?
C12-glucocerebroside + H2O	-	Homo sapiens	D-glucose + C12-ceramide	-	?
glucocerebroside + H2O	-	Homo sapiens	D-glucose + ceramide	-	?

Synonyms

Synonyms	Comment	Organism
acid beta-D-glucosidase	-	Homo sapiens
beta-glucocerebrosidase	-	Homo sapiens
GBA	-	Homo sapiens
glucosylceramidase	-	Homo sapiens

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Release 2023.1 (January 2023)