Literature summary for 3.2.1.45 extracted from

Van Weely, S.; Van Leeuwen, M.B.; Jansen, I.D.; De Bruijn, M.A.; Brouwer-Kelder, E.M.; Schram, A.W.; Sa Miranda, M.C.; Barranger, J.A.; Petersen, E.M.; Goldblatt, J.; Stotz, H.; Schwarzmann, G.; Sandhoff, K.; Svennerholm, L.; Erikson, A.; Tager, J.M.; et.al.
Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts (1991), Biochim. Biophys. Acta, 1096, 301-311.

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Activating Compound

Activating Compound	Comment	Organism	Structure
saposin-C	activation varies depending on mutation	Homo sapiens
sodium taurocholate	-	Homo sapiens

Application

Application	Comment	Organism
medicine	Gaucher disease, sphingolipoidose	Homo sapiens

KM Value [mM]

KM Value [mM]	KM Value Maximum [mM]	Substrate	Comment	Organism	Structure
2.1	3.7	4-methylumbelliferyl-beta-D-glucopyranoside	different patients	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	-	normal and Gaucher disease enzyme	-

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.
4-methylumbelliferyl-beta-D-glucopyranoside + H2O	-	Homo sapiens	methylumbelliferone + glucose	-	?
6(N-methyl-N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl))aminohexyl-2-N-sphingosyl 1-O-beta-D-glucoside + H2O	NBD-glucocerebroside	Homo sapiens	D-glucose + 6(N-methyl-N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl))aminohexyl-2-N-sphingosine	-	?
6(N-methyl-N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl))aminohexyl-2-N-sphingosyl 1-O-beta-D-glucoside + H2O	complexed with bovine serum albumin	Homo sapiens	D-glucose + 6(N-methyl-N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl))aminohexyl-2-N-sphingosine	-	?
glucocerebroside + H2O	-	Homo sapiens	glucose + ceramide	-	?

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Release 2023.1 (January 2023)