Literature summary for 3.2.1.45 extracted from

Ziegler, S.G.; Eblan, M.J.; Gutti, U.; Hruska, K.S.; Stubblefield, B.K.; Goker-Alpan, O.; LaMarca, M.E.; Sidransky, E.
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease (2007), Mol. Genet. Metab., 91, 195-200.

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Protein Variants

Protein Variants	Comment	Organism
D409H	mutation present in humans with Gaucher disease	Homo sapiens
L174P	mutation present in humans with Gaucher disease	Homo sapiens
L444P	mutation present in humans with Gaucher disease	Homo sapiens
Q497R	mutation present in humans with Gaucher disease	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
GBA	-	Homo sapiens
glucocerebrosidase	-	Homo sapiens

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Release 2023.1 (January 2023)