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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
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