The 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 LRG_673
Transcript reference NM_000152.3
Exon/intron information NM_000152.3 exon/intron table
Associated with diseases GSD, GSD2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Marianne Hoogeveen-Westerveld and Pim Pijnappel
Total number of public variants reported 3012
Unique public DNA variants reported 784
Individuals with public variants 1970
Hidden variants 30
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 January 11, 2023
Version GAA:230111

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
External URL Pompe disease research ErasmusMC
HGNC 4065
Entrez Gene 2548
PubMed articles GAA
OMIM - Gene 606800
OMIM - Diseases GSD2 (storage disease, glycogen, type II (GSD-2, Pompe disease))
GeneCards GAA
GeneTests GAA
Orphanet GAA

Active transcripts




NCBI ID     

NCBI Protein ID     

00024242 17 transcript variant 1 NM_000152.3 NP_000143.2 3012

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 © 2005-2023. 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.

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