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FLASH GENE
Symbol GBE1 contributors: mct - updated : 03-02-2017
HGNC name glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
HGNC id 4180
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer monomer
HOMOLOGY
Homologene
FAMILY glycosyl hydrolase 13 family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus
basic FUNCTION
  • amylo (1,4->1,6) trans-glucosidase, branching enzyme, functioning in glycogen symthesis by catalyzing the formation of alpha 1,6- glucosidic linkages
  • playing an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells
  • plays an essential role in glycogen biosynthesis by generating &
    • 945;-1,6-glucosidic branches from &
    945;-1,4-linked glucose chains, to increase solubility of the glycogen polymer
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NFE2L2 induction in skeletal muscle (SkM) increases GBE1 and PHKA1 expression and reduces muscle glycogen content, resulting in improved glucose tolerance
    • cell & other
    REGULATION
    activated by thyroid hormones
    hypoxia that upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1), two enzymes involved in the biosynthesis of glycogen
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD4 , APBN
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS