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glucosylceramidase beta

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Target not currently curated in GtoImmuPdb

Target id: 2978

Nomenclature: glucosylceramidase beta

Family: 3.2.1.- Glycosidases

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 536 1q22 GBA1 glucosylceramidase beta 1
Mouse - 515 3 39.01 cM Gba1 glucosylceramidase beta 1
Rat - 515 2q34 Gba1 glucosylceramidase beta 1
Previous and Unofficial Names Click here for help
Gba | glucosidase, beta, acid | glucosidase | GBA | acid beta-glucosidase | beta-glucocerebrosidase | GLUC | glucosylceramidase | GBA1
Database Links Click here for help
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
RefSeq Nucleotide
RefSeq Protein
Enzyme Reaction Click here for help
EC Number:
Description Reaction Reference
Hydrolysis of terminal, non-reducing β-D-glucosyl residues with release of β-D-glucose.
EC Number:
Description Reaction Reference
D-glucosyl-N-acylsphingosine + H2O <=> D-glucose + N-acylsphingosine
Activator Comments
Ambroxol and NCGC607 increase GCase activity within lysosomes, but this effect is an indirect one. The compounds act as chaperones that improve GCase transport from the ER to lysosomes. Ambroxol binds to the GCase catalytic site, so has direct inhibitory potential, whereas NCGC607 has been determined to be noninhibitory [1].
Other Binding Ligands
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Value Parameter Reference
ambroxol Small molecule or natural product Approved drug Hs Binding - - 3
NCGC607 Small molecule or natural product Hs Binding - - 1
Immuno Process Associations
Immuno Process:  Inflammation
Immuno Process:  Immune regulation
Immuno Process:  Cytokine production & signalling
Gene Expression and Pathophysiology Comments
Uniprot and OMIM provide detailed information on the GBA mutations that are associated with pathophysiological conditions including Gaucher's disease and Parkinson's disease.
General Comments
Ambroxol (PubChem CID 2132) is reported to rescue defective glucocerebrosidase activity in GBA-mutant Parkinson's disease cells [2]. Ambroxol acts as a molecular chaperone, and is predicted to offer disease modifying activity in GBA-mutant Parkinson's disease [4]. Targeting the GBA-alpha-synuclein (SNCA) pathway is also viewed as a novel mechanism that offers neuroprotective potential in Parkinson's disease [5].


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1. Aflaki E, Borger DK, Moaven N, Stubblefield BK, Rogers SA, Patnaik S, Schoenen FJ, Westbroek W, Zheng W, Sullivan P et al.. (2016) A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism. J Neurosci, 36 (28): 7441-52. [PMID:27413154]

2. Ambrosi G, Ghezzi C, Zangaglia R, Levandis G, Pacchetti C, Blandini F. (2015) Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells. Neurobiol Dis, 82: 235-242. [PMID:26094596]

3. Maegawa GH, Tropak MB, Buttner JD, Rigat BA, Fuller M, Pandit D, Tang L, Kornhaber GJ, Hamuro Y, Clarke JT et al.. (2009) Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem, 284 (35): 23502-16. [PMID:19578116]

4. McNeill A, Magalhaes J, Shen C, Chau KY, Hughes D, Mehta A, Foltynie T, Cooper JM, Abramov AY, Gegg M et al.. (2014) Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain, 137 (Pt 5): 1481-95. [PMID:24574503]

5. Schapira AH. (2015) Glucocerebrosidase and Parkinson disease: Recent advances. Mol Cell Neurosci, 66 (Pt A): 37-42. [PMID:25802027]

How to cite this page

3.2.1.- Glycosidases: glucosylceramidase beta. Last modified on 26/02/2020. Accessed on 16/04/2024. IUPHAR/BPS Guide to PHARMACOLOGY,