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GAA

From SNPedia

is agene
is mentioned by
Full nameglucosidase, alpha; acid
EntrezGene2548
PheGenI2548
VariationViewer2548
ClinVarGAA
GeneCardsGAA
dbSNP2548
DiseasesGAA
SADR2548
HugeNav2548
wikipediaGAA
googleGAA
gopubmedGAA
EVSGAA
HEFalMpGAA
MyGene2GAA
23andMeGAA
UniProtP10253
EnsemblENSG00000171298
OMIM606800
# SNPs137
 Max MagnitudeChromosome positionSummary
rs1042393080,105,798
rs1042395080,105,870
rs1055945806080,104,552
rs1057516189080,118,722
rs1057516215080,108,609
rs1057516251080,104,755
rs1057516277080,117,005
rs1057516290080,108,487
rs1057516327080,116,991
rs1057516328080,116,992
rs1057516341080,118,710
rs1057516359080,108,556
rs1057516363080,117,020
rs1057516426080,112,033
rs1057516503080,104,867
rs1057516520080,108,528
rs1057516546080,108,605
rs1057516581080,113,362
rs1057516600080,107,816
rs1057516649080,117,020
rs1057516659080,117,020
rs1057516704080,118,206
rs1057516785080,108,512
rs1057516826080,112,651
rs1057516924080,117,059
rs1057516928080,113,028
rs1057517105080,112,655
rs1057517146080,110,953
rs1057517148080,117,111
rs1057517165080,104,822
rs1057517267080,110,956
rs1057517286080,108,606
rs1057517308080,119,287
rs1057517320080,105,057
rs1057517381080,104,979
rs1057517417080,104,552
rs1057518106080,112,948
rs1057524664080,117,094
rs1064794288080,108,409
rs1064796703080,108,396
rs1064796706080,113,238
rs1115084380,105,870
rs1126690080,117,606
rs121907936080,107,894
rs121907937080,110,950
rs121907938080,113,350
rs121907939080,118,713
rs121907940080,107,837
rs121907941080,110,974
rs121907942080,111,023
... 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