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glucosylceramidase; lysosomal acid glucosylceramidase; acidic beta glucosidase; beta-glucocerebrosidase (GBA1, GBA, GC, GLUC)
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:
- GBA/GBA1 gene mutation
Related
Gaucher's disease
Specific
alglucerase (Ceredase)
non-lysosomal glucosylceramidase (NLGase, glucosylceramidase 2, Beta-glucocerebrosidase 2, Beta-glucosidase 2) (GBA2 KIAA1605 AD035)
velaglucerase alfa (Vpriv)
General
glucosidase
Properties
SIZE: entity length = 536 aa
MW = 60 kD
COMPARTMENT: lysosome
MOTIF: signal sequence {1-39}
MOTIF: signal sequence {21-39}
cysteine residue {C43}
MODIFICATION: cysteine residue {C55}
cysteine residue {C55}
MODIFICATION: cysteine residue {C43}
cysteine residue {C57}
MODIFICATION: cysteine residue {C62}
N-glycosylation site {N58}
cysteine residue {C62}
MODIFICATION: cysteine residue {C57}
N-glycosylation site {N98}
N-glycosylation site {N185}
glutamate residue {E274}
N-glycosylation site {N309}
glutamate residue {E379}
N-glycosylation site {N501}
Database Correlations
OMIM correlations
MORBIDMAP 606463
UniProt P04062
Pfam PF02055
ENZYME 3.2.1.45
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 :accession P04062
- 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