GBA gene homepage

A Parkinson's disease Mutation Database
General information
Gene symbol GBA
Gene name glucosidase, beta, acid
Chromosome 1
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_009783.1
Transcript reference NM_000157.3
Exon/intron information NM_000157.3 exon/intron table
Associated with diseases PD, Acute neuronopathic Gaucher's disease, Gaucher disease type 3C, Gaucher disease, perinatal lethal, Gaucher's disease, type 1, Lewy body dementia, Subacute neuronopathic Gaucher's disease
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Birgitt Schuele
Total number of public variants reported 70
Unique public DNA variants reported 46
Individuals with public variants 25
Hidden variants 11
Download all this gene's data Download all data
Notes A Parkinson's disease Mutation Database
The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated September 15, 2020
Version GBA:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000157.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/GBA
External URL Orphanet
HGNC 4177
Entrez Gene 2629
PubMed articles GBA
OMIM - Gene 606463
OMIM - Diseases PD (Parkinson disease (PD))
Acute neuronopathic Gaucher's disease
Gaucher disease type 3C
Gaucher disease, perinatal lethal
Gaucher's disease, type 1
Lewy body dementia
Subacute neuronopathic Gaucher's disease
HGMD GBA
GeneCards GBA
GeneTests GBA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000025 1 glucosidase, beta, acid, transcript variant 2 NM_000157.3 NP_001005741.1 70


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.