Literature summary for 3.2.1.45 extracted from

Schmitz, M.; Alfalah, M.; Aerts, J.M.F.G.; Naim, H.Y.; Zimmer, K.P.
Impaired trafficking of mutants of lysosomal glucocerebrosidase in gaucher's disease (2005), Int. J. Biochem. cell Biol., 37, 2310-2320.

Search for more literature for 3.2.1.45

Cloned(Commentary)

Cloned (Comment)	Organism
expression in mouse fibroblasts NIH3T3	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
D409H	a transport block in the endoplasmic reticulum of the enzyme with the mutation D409H	Homo sapiens
G202R	a transport block in the endoplasmic reticulum of the enzyme with the mutation G202R	Homo sapiens
L444P	a transport block in the endoplasmic reticulum of the enzyme with the mutation L444P	Homo sapiens
N370S	retarded transport of glucocerebrosidase carrying the mutation	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

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Release 2023.1 (January 2023)