Literature summary for 3.2.1.45 extracted from

Sawkar, A.R.; Schmitz, M.; Zimmer, K.; Reczek, D.; Edmunds, T.; Balch, W.E.; Kelly, J.W.
Chemical chaperones and permissive temperatures alter the cellular localization of Gaucher disease associated glucocerebrosidase variants (2006), ACS Chem. Biol., 1, 235-251.

Search for more literature for 3.2.1.45

Application

Application	Comment	Organism
medicine	manipulating the endoplasmic reticulum environment with chemical chaperones can correct the instability of mutant enzyme (causing Gaucher disease)	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G202R	point mutation can cause Gaucher disease, mutant is destabilized in the neutral pH environment of the endoplasmic reticulum, rendering it prone to endoplasmic reticulum associated degradation	Homo sapiens
L444P	point mutation can cause Gaucher disease, mutant is destabilized in the neutral pH environment of the endoplasmic reticulum, rendering it prone to endoplasmic reticulum associated degradation	Homo sapiens
N370S	point mutation can cause Gaucher disease, mutant is destabilized in the neutral pH environment of the endoplasmic reticulum, rendering it prone to endoplasmic reticulum associated degradation	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.
additional information	Homo sapiens	point mutations in glucocerebrosidase can cause Gaucher disease, a common lysosomal storage disease	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	point mutations in glucocerebrosidase can cause Gaucher disease, a common lysosomal storage disease	Homo sapiens	?	-	?

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Release 2023.1 (January 2023)