GAA

is a	gene
is	mentioned by
Full name	glucosidase, alpha; acid
EntrezGene	2548
PheGenI	2548
VariationViewer	2548
ClinVar	GAA
GeneCards	GAA
dbSNP	2548
Diseases	GAA
SADR	2548
HugeNav	2548
wikipedia	GAA
google	GAA
gopubmed	GAA
EVS	GAA
HEFalMp	GAA
MyGene2	GAA
23andMe	GAA
UniProt	P10253
Ensembl	ENSG00000171298
OMIM	606800
# SNPs	137

	Max Magnitude	Chromosome position
rs1042393	0	80,105,798
rs1042395	0	80,105,870
rs1055945806	0	80,104,552
rs1057516189	0	80,118,722
rs1057516215	0	80,108,609
rs1057516251	0	80,104,755
rs1057516277	0	80,117,005
rs1057516290	0	80,108,487
rs1057516327	0	80,116,991
rs1057516328	0	80,116,992
rs1057516341	0	80,118,710
rs1057516359	0	80,108,556
rs1057516363	0	80,117,020
rs1057516426	0	80,112,033
rs1057516503	0	80,104,867
rs1057516520	0	80,108,528
rs1057516546	0	80,108,605
rs1057516581	0	80,113,362
rs1057516600	0	80,107,816
rs1057516649	0	80,117,020
rs1057516659	3	80,117,020
rs1057516704	0	80,118,206
rs1057516785	0	80,108,512
rs1057516826	0	80,112,651
rs1057516924	0	80,117,059
rs1057516928	0	80,113,028
rs1057517105	0	80,112,655
rs1057517146	0	80,110,953
rs1057517148	0	80,117,111
rs1057517165	0	80,104,822
rs1057517267	0	80,110,956
rs1057517286	0	80,108,606
rs1057517308	0	80,119,287
rs1057517320	0	80,105,057
rs1057517381	0	80,104,979
rs1057517417	0	80,104,552
rs1057518106	0	80,112,948
rs1057524664	0	80,117,094
rs1064794288	0	80,108,409
rs1064796703	0	80,108,396
rs1064796706	0	80,113,238
rs11150843	0	80,105,870
rs1126690	0	80,117,606
rs121907936	3	80,107,894
rs121907937	0	80,110,950
rs121907938	0	80,113,350
rs121907939	3	80,118,713
rs121907940	0	80,107,837
rs121907941	0	80,110,974
rs121907942	0	80,111,023
... further results

The GAA gene, located on chromosome 17, encodes an enzyme called acid alpha-glucosidase (also known as acid maltase).

Multiple mutations in the GAA gene have been shown to cause glycogen storage disease type II, also known as Pompe disease. GAA gene mutations significantly reduce the activity of acid alpha-glucosidase, preventing the enzyme from breaking down glycogen effectively. As a result, this complex sugar can build up to toxic levels in lysosomes. The abnormal buildup of glycogen damages organs and tissues throughout the body, particularly the muscles, leading to progressive muscle weakness, heart problems, and the other features of Pompe disease.Genetics Home Reference