GAA gene homepage

General information
Gene symbol GAA
Gene name glucosidase, alpha; acid
Chromosome 17
Chromosomal band q25.2-q25.3
Imprinted Not imprinted
Genomic reference NG_009822.1
Transcript reference NM_000152.3
Exon/intron information NM_000152.3 exon/intron table
Associated with diseases GSD-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Marianne Hoogeveen-Westerveld and Pim Pijnappel
Total number of public variants reported 595
Unique public DNA variants reported 325
Individuals with public variants 249
Hidden variants 0
Download all this gene's data Download all data
Notes This database is maintained by the Pompe Center Erasmus MC.
The database was originally established by Marian Kroos and Arnold Reuser. In 2017 curatorship was transferred to Marianne Hoogeveen Westerveld and Pim Pijnappel.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 03, 2005
Date last updated November 08, 2018
Version GAA:181108

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_000152.3.
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/GAA
External URL Orphanet
Pompe disease research ErasmusMC
HGNC 4065
Entrez Gene 2548
PubMed articles GAA
OMIM - Gene 606800
OMIM - Diseases GSD-2 (storage disease, glycogen, type II (GSD-2, Pompe disease))
HGMD GAA
GeneCards GAA
GeneTests GAA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024242 17 transcript variant 1 NM_000152.3 NP_000143.2 595


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 © 2005-2018. 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.