The 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 DLB, PD, Gaucher disease, perinatal lethal, Gaucher disease, type I, Gaucher disease, type II, Gaucher disease, type III, Gaucher disease, type IIIC
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) The Parkinson's Institute - Birgitt Schuele
Total number of public variants reported 82
Unique public DNA variants reported 54
Individuals with public variants 26
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 August 02, 2022
Version GBA:220802

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
HGNC 4177
Entrez Gene 2629
PubMed articles GBA
OMIM - Gene 606463
OMIM - Diseases DLB (dementia, Lewy body)
PD (Parkinson disease (PD))
Gaucher disease, perinatal lethal
Gaucher disease, type I
Gaucher disease, type II
Gaucher disease, type III
Gaucher disease, type IIIC
GeneCards GBA
GeneTests GBA
Orphanet GBA

Active transcripts




NCBI ID     

NCBI Protein ID     

00000025 1 glucosidase, beta, acid, transcript variant 2 NM_000157.3 NP_001005741.1 82

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2011-2022. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.