Glucosidase, Alpha, Acid

Alternative Names

  • GAA
  • Acid Alpha-Glucosidase
  • Alpha-Glucosidase, Acid
  • Alpha-1,4-Glucosidase
  • Acid Maltase

Associated Diseases

Glycogen Storage Disease II
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OMIM Number

606800

NCBI Gene ID

2548

Uniprot ID

P10253

Length

18,351 bases

No. of Exons

20

No. of isoforms

1

Protein Name

Lysosomal alpha-glucosidase

Molecular Mass

105324 Da

Amino Acid Count

952

Genomic Location

chr17:80,101,531-80,119,881

Gene Map Locus
17q25.3

Description

The GAA gene encodes the lysosomal enzyme alpha-1,4-glucosidase, which is essential for the degradation of glycogen to glucose. 

Mutations in the GAA gene result in glycogen storage disease II (Pompe disease); which is an autosomal recessive disorder with widely varying symptoms. Over 200 mutations in the GAA gene have been uncovered in people with Pompe disease.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000152.3:c.340_341insTLebanonNC_000017.11:g.80104926_80104927insTLikely PathogenicGlycogen Storage Disease IING_009822.1:g.8371_8372insT; NM_000152.3:c.340_341insT; NP_000143.2:p.Lys114IlefsTer321068640
NM_000152.3:c.935T>GLebanonNC_000017.11:g.80107876T>GLikely PathogenicGlycogen Storage Disease IING_009822.1:g.11321T>G; NM_000152.3:c.935T>G; NP_000143.2:p.Leu312Arg
NM_000152.4:c.1064T>CLebanonNC_000017.11:g.80108398T>CPathogenicGlycogen Storage Disease IING_009822.1:g.11843T>C; NM_000152.4:c.1064T>C; NP_000143.2:p.Leu355Pro766074609284093
NM_000152.4:c.1327-2A>GUnited Arab Emirateschr17:80109943PathogenicGlycogen Storage Disease IING_009822.1:g.13388A>G; NM_000152.4:c.1327-2A>G1410829147
NM_000152.4:c.266G>ALebanon; Saudi Arabiachr17:80104852Likely PathogenicGlycogen Storage Disease II; Glycogen Storage Disease ING_009822.1:g.8297G>A; NM_000152.4:c.266G>A; NP_000143.2:p.Arg89His200586324283219
NM_000152.4:c.340insTUnited Arab Emirateschr17:80104926PathogenicGlycogen Storage Disease IING_009822.1:g.8371insT; NM_000152.4:c.340insT
NM_000152.4:c.670C>TLebanonNC_000017.11:g.80105872C>TPathogenic,Uncertain SignificanceGlycogen Storage Disease IING_009822.1:g.9317C>T; NM_000152.4:c.670C>T; NP_000143.2:p.Arg224Trp757700700189188

Other Reports

Saudi Arabia

  

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