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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
    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