glucosylceramidase; lysosomal acid glucosylceramidase; acidic beta glucosidase; beta-glucocerebrosidase (GBA1, GBA, GC, GLUC)
Jump to navigation
Jump to search
Function
- lysosomal enzyme catalyzing degradation of glucosylceramides primarily in monocytes & macrophages
- interacts with saposin-C
- requires saposin-C & anionic phospholipids for activity
D-glucosyl-N-acylsphingosine + H2O
<-->
D-glucose + N-acylsphingosine
Structure
belongs to the glycosyl hydrolase 30 family
Compartment
- lysosome membrane, peripheral membrane lumenal side
- interaction with saposin-C promotes membrane association
Alternative splicing
- alternative initiation
- named isoforms=3
Pathology
- defects in GBA are the cause of Gaucher disease (GD) types 1, 2, 3, 3C, perinatal lethal Gaucher disease
- defects in GBA/GBA1 may be a risk factor in the development of Parkinson disease
Pharmacology
- used to treat Gaucher's disease
- available under the names ceredase & cerezyme (Genzyme) (see alglucerase)
Laboratory
More general terms
More specific terms
- alglucerase (Ceredase)
- non-lysosomal glucosylceramidase (NLGase, glucosylceramidase 2, Beta-glucocerebrosidase 2, Beta-glucosidase 2) (GBA2 KIAA1605 AD035)
- velaglucerase alfa (Vpriv)
Additional terms
References
- ↑ Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
- ↑ ceredase; Clinical information on ceredase http://www.genzyme.com/prodserv/specialty_therapeutics/ceredase/ cerezyme; note=Clinical information on
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA
- ↑ UniProt http://www.uniprot.org/uniprot/P04062.html
- ↑ Gever J The Lysosome: Viable Target for Parkinson's? Glucocerebrosidase activity may provide novel approach to stubborn illness. MedPage Today. April 23, 2017 https://www.medpagetoday.com/MeetingCoverage/AAN/64736
Database
- UniProt: http://www.uniprot.org/uniprot/P04062.html
- OMIM: https://mirror.omim.org/entry/168600
- OMIM: https://mirror.omim.org/entry/230800
- OMIM: https://mirror.omim.org/entry/230900
- OMIM: https://mirror.omim.org/entry/231000
- OMIM: https://mirror.omim.org/entry/231005
- OMIM: https://mirror.omim.org/entry/236750
- OMIM: https://mirror.omim.org/entry/606463
- OMIM: https://mirror.omim.org/entry/608013