Literature summary for 3.2.1.45 extracted from

Amaral, O.; Marcao, A.; Sa Miranda, M.; Desnick, R.J.; Grace, M.E.
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients (2000), Eur. J. Hum. Genet., 8, 95-102.

Search for more literature for 3.2.1.45

Application

Application	Comment	Organism
medicine	Gaucher disease, sphingolipoidose	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in Sf9 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
F109V	Gaucher disease mutation, less active	Homo sapiens
G377S	Gaucher disease mutation, less active	Homo sapiens
N370S	Gaucher disease type I mutation	Homo sapiens
N396T	Gaucher disease mutation, less active	Homo sapiens
P415R	-	Homo sapiens
R359Q	Gaucher disease mutation, less active	Homo sapiens
R395P	Gaucher disease mutation, less active	Homo sapiens
W184R	Gaucher disease mutation, less active	Homo sapiens

Inhibitors

Inhibitors	Comment	Organism	Structure
(1R,2R,3S,4S,5R,6S)-7-oxabicyclo[4.1.0]heptane-2,3,4,5-tetrol	-	Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P04062	normal and Gaucher disease enzyme	-

Purification (Commentary)

Purification (Comment)	Organism
of the recombinant protein	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	skin fibroblasts in culture	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
12(N-methyl-N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl))aminododecanoyl-2-N-sphingosyl 1-O-beta-D-glucoside + H2O	-	Homo sapiens	D-glucose + 12(N-methyl-N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl))aminododecanoyl-2-N-sphingosine	-	?
4-methylumbelliferyl-beta-D-glucopyranoside + H2O	-	Homo sapiens	methylumbelliferone + glucose	-	?
glucocerebroside + H2O	-	Homo sapiens	glucose + ceramide	-	?

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Release 2023.1 (January 2023)