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Description for Protein GAA

glucosidase, alpha; acid
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
Summary:
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.1.20
    KEGG - Orthology:
    K12316
    KEGG - Pathway(s):
    hsa00052; hsa00500; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Glucosidase, alpha, acid; Alpha 1,4 glucosidase acid maltase; Acid alpha glucosidase; Acid maltase
    Approved Symbol:
    GAA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Acarbose(db)

    Associated Genetic Diseases:

  • Acid alpha-glucosidase, allele 2(Pd);
  • Acid alpha-glucosidase, allele 4(Pd);
  • Glycogen storage disease II(Pd);
  • Glycogen storage disease II, adult form(Pd);
  • Glycogen storage disease II, infantile form(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 06006 Entrez Gene ID: 2548 OMIM ID: 606800 Swissprot Accession: P10253; A6NFM4;