The GAA gene homepage

General information
Gene symbol GAA
Gene name alpha glucosidase
Chromosome 17
Chromosomal band q25.3
Imprinted Unknown
Genomic reference LRG_673
Transcript reference NM_000152.4, NM_001079803.2, NM_001079804.2, NR_134848.1, XM_005257193.2, XM_005257194.4
Associated with diseases Pompe's Disease
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 2
Download all this gene's data Download all data
Date created March 16, 2021
Date last updated March 16, 2021
Version GAA:210316

Links to other resources
HGNC 4065
Entrez Gene 2548
PubMed articles GAA
OMIM - Gene 606800
HGMD GAA
GeneCards GAA
GeneTests GAA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000399 17 glucosidase alpha, acid, transcript variant 1 NM_000152.4 NP_000143.2 0
00000400 17 glucosidase alpha, acid, transcript variant 2 NM_001079803.2 NP_001073271.1 0
00000401 17 glucosidase alpha, acid, transcript variant 3 NM_001079804.2 NP_001073272.1 0
00000402 17 glucosidase alpha, acid, transcript variant 4 NR_134848.1 - 0
00000403 17 glucosidase alpha, acid, transcript variant X1 XM_005257193.2 XP_005257250.1 0
00000404 17 glucosidase alpha, acid, transcript variant X2 XM_005257194.4 XP_005257251.1 0


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 © 2021. 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.