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Literature summary extracted from

  • de la Mata, M.; Cotan, D.; Oropesa-Avila, M.; Garrido-Maraver, J.; Cordero, M.D.; Villanueva Paz, M.; Delgado Pavon, A.; Alcocer-Gomez, E.; de Lavera, I.; Ybot-Gonzalez, P.; Paula Zaderenko, A.; Ortiz Mellet, C.; Garcia Fernandez, J.M.; Sanchez-Alcazar, J.A.
    Pharmacological chaperones and coenzyme Q10 treatment improves mutant beta-glucocerebrosidase activity and mitochondrial function in neuronopathic forms of Gaucher disease (2015), Sci. Rep., 5, 10903 .
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.45 L444P the mutation is associated with Gaucher disease and results in disrupted enzyme folding in the endoplasmic reticulum and impaired post-endoplasmic reticulum trafficking Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
3.2.1.45 lysosome
-
 Homo sapiens 5764
-

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.45 Homo sapiens P04062
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.2.1.45 fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.45 4-methylumbelliferyl beta-D-glucopyranoside + H2O
-
 Homo sapiens 4-methylumbelliferone + beta-D-glucopyranose
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.2.1.45 beta-glucocerebrosidase
-
 Homo sapiens
3.2.1.45 GBA1
-
 Homo sapiens
3.2.1.45 Gcase
-
 Homo sapiens