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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
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