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FLASH GENE
Symbol GAA contributors: mct - updated : 08-03-2011
HGNC name glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
HGNC id 4065
Corresponding disease
GSD2 glycogen storage disease, type II
Location 17q25.3      Physical location : 78.075.354 - 78.093.678
Synonym name
  • glucosidase,alpha-, acid, 4 and alpha 1
  • lysosomal alpha-glucosidase
  • Synonym symbol(s) LYAG
    EC.number 3.2.1.20
    DNA
    TYPE functioning gene
    STRUCTURE 18.32 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   silencer   transcription factor
    text structure transcriptional control elements in the first intron in particular a silencer responsive to C21orf33 and YY1
    MAPPING cloned Y linked   status confirmed
    Physical map
    LGALS3BP 17q25.2-q25.3 lectin, galactoside-binding, soluble, 3 binding protein SHAPY 17q25.3 Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase C1QTNF1 17q25.2 C1q and tumor necrosis factor related protein 1 LOC388422 17 LOC388422 FLJ21865 17q25.3 endo-beta-N-acetylglucosaminidase LOC339162 17q25.3 similar to ataxin 2-binding protein 1 isoform 2; hexaribonucleotide binding protein 1 LOC388423 17 LOC388423 LOC201109 17q25.3 hypothetical LOC201109 LOC339221 17q25.3 Alkaline sphingomyelinase MGC10561 17q25.3 hypothetical protein MGC10561 CBX8 12p13.32 chromobox homolog 8 (Pc class homolog, Drosophila) CBX4 17q25.3 chromobox homolog 4 (Pc class homolog, Drosophila) MGC25062 LOC388424 17 similar to hypothetical protein FLJ20753 FLJ20753 17q25.3 hypothetical protein FLJ20753 GAA 17q25.2-q25.3 glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) DDX48 17q25.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 48 LOC388425 17 hypothetical gene supported by BC035394 CARD14 17q25 caspase recruitment domain family, member 14 SGSH 17q25.3 N-sulfoglucosamine sulfohydrolase (sulfamidase) SLC26A11 17q25 solute carrier family 26, member 11 KIAA1618 17q25.3 KIAA1618 protein KIAA1554 17q25.3 KIAA1554 protein FLJ35220 17q25.3 hypothetical protein FLJ35220 LOC388426 17 hypothetical gene supported by AK090819 NPTX1 17q25.2 neuronal pentraxin I LOC201259 17q25.3 similar to 60S ribosomal protein L32 raptor 17q25.3 raptor LOC390817 17 similar to 60S ribosomal protein L12 FLJ11749 17q25.3 hypothetical protein FLJ11749 LOC284180 17q25.3 hypothetical LOC284180 BAIAP2 17q25 BAI1-associated protein 2 LOC388427 17 LOC388427 LOC388428 17 hypothetical gene supported by AK126811 AZI1 17q25.3 hypothetical gene supported by AK126811 FLJ31528 17q25.3 hypothetical protein FLJ31528 LOC284184 17q25.3 hypothetical LOC284184 MGC15523 17q25.3 hypothetical protein MGC15523
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 3782 105.3 952 - 2008 18458862
    21 - 3597 105.3 952 - 2008 18458862
    20 - 3517 105.3 952 - 2008 18458862
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     liver    
    Lymphoid/Immunespleen   highly
    Reproductivefemale systemplacenta  highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    P-type (trefoil) domain
    HOMOLOGY
    Homologene
    FAMILY glycosyl hydrolase 31 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • catalyzing the hydrolysis of alpha 4 and alpha 1-6 glucosidic linkages of glycogen
  • playing an essential role for the degradation of glycogen to glucose in lysosomes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD2
    related resource Acidalpha-glucosidase
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS