glucosylceramidase beta | 3.2.1.- Glycosidases | IUPHAR/BPS Guide to PHARMACOLOGY

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glucosylceramidase beta

Target not currently curated in GtoImmuPdb

Target id: 2978

Nomenclature: glucosylceramidase beta

Family: 3.2.1.- Glycosidases

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 536 1q22 GBA glucosylceramidase beta
Mouse - 515 3 F1; 3 39.01 cM Gba glucosidase, beta, acid
Rat - 515 2q34 Gba glucosylceramidase beta
Previous and Unofficial Names
glucosidase, beta, acid | glucosidase | acid beta-glucosidase | beta-glucocerebrosidase | GLUC | glucosylceramidase | GBA1
Database Links
BRENDA
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
KEGG Gene
OMIM
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Enzyme Reaction
EC Number: 3.2.1.21
Description Reaction Reference
Hydrolysis of terminal, non-reducing β-D-glucosyl residues with release of β-D-glucose.
EC Number: 3.2.1.45
Description Reaction Reference
D-glucosyl-N-acylsphingosine + H2O <=> D-glucose + N-acylsphingosine
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 [1]. Ambroxol acts as a molecular chaperone, and is predicted to offer disease modifying activity in GBA-mutant Parkinson's disease [2]. Targeting the GBA-alpha-synuclein (SNCA) pathway is also viewed as a novel mechanism that offers neuroprotective potential in Parkinson's disease [3].

References

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1. 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]

2. 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]

3. 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 14/12/2017. Accessed on 18/09/2019. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2978.