Literature summary for 3.2.1.45 extracted from

Horowitz, M.; Pasmanik-Chor, M.; Ron, I.; Kolodny, E.H.
The enigma of the E326K mutation in acid beta-glucocerebrosidase (2011), Mol. Genet. Metab., 104, 35-38.

Search for more literature for 3.2.1.45

Protein Variants

Protein Variants	Comment	Organism
D140H	mean activity of mutant compared to wild-type: 67.7%	Homo sapiens
D140H/E326K	mean activity of mutant compared to wild-type: 22.2%	Homo sapiens
E326K	Gaucher disease causing mutation in human. Mean activity of mutant compared to wild-type: 38.7%. Considering the biochemical data together with the patients' data: E326K is a very mild mutation and, therefore, does not appear as a single mutation on a Gaucher disease allele. It further depresses the enzymatic activity of any other GBA mutation with which it appears in cis	Homo sapiens
N370S	mean activity of mutant compared to wild-type: 17.7%	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

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

Synonyms

Synonyms	Comment	Organism
beta-glucocerebrosidase	-	Homo sapiens
GBA	-	Homo sapiens

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Release 2023.1 (January 2023)