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
GeneCards GAA
GeneTests GAA

Active transcripts




NCBI ID     

NCBI Protein ID     

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

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