Literature summary for 3.2.1.45 extracted from

Salvioli, R.; Tatti, M.; Scarpa, S.; Moavero, S.M.; Ciaffoni, F.; Felicetti, F.; Kaneski, C.R.; Brady, R.O.; Vaccaro, A.M.
The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C (2005), Biochem. J., 390, 95-103.

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Protein Variants

Protein Variants	Comment	Organism
N370S	in Gaucher cell homozygous for this mutation the activity, measured in presence of taurocholate and Triton X-100 as activators is approximately 10% of the normal value. When activated by a mixture of saposin C and large unilamellar vesicles composed of anionic phospholipids such as phosphatidylserine and cholesterol, the activity reaches 50-70% of the control value. The mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C	Homo sapiens

Inhibitors

Inhibitors	Comment	Organism	Structure
saposin C	-	Homo sapiens

Localization

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Gaucher patients	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

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Release 2023.1 (January 2023)