Have questions? Visit https://www.reddit.com/r/SNPedia

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
# SNPs135
 Max MagnitudeChromosome positionSummary
rs1042393080,105,798
rs1042395080,105,870
rs105751618980,118,722
rs105751621580,108,609
rs105751625180,104,755
rs105751627780,117,005
rs105751629080,108,487
rs105751632780,116,991
rs105751632880,116,992
rs105751634180,118,710
rs105751635980,108,556
rs105751636380,117,020
rs105751642680,112,033
rs105751650380,104,867
rs105751652080,108,528
rs105751654680,108,605
rs105751658180,113,362
rs105751660080,107,816
rs105751664980,117,020
rs105751665980,117,020
rs105751670480,118,206
rs105751678580,108,512
rs105751682680,112,651
rs105751692480,117,059
rs105751692880,113,028
rs105751710580,112,655
rs105751714680,110,953
rs105751714880,117,111
rs105751716580,104,822
rs105751726780,110,956
rs105751728680,108,606
rs105751730880,119,287
rs105751732080,105,057
rs105751738180,104,979
rs105751741780,104,552
rs105751810680,112,948
rs1057524664
rs1064794288
rs1064796703
rs1064796706
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
rs121907943080,118,271
... 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