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FLASH GENE
Symbol PYGL contributors: mct - updated : 22-05-2015
HGNC name phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)
HGNC id 9725
Corresponding disease
GSD6A glycogen storage disease, type VI A
Location 14q22.1      Physical location : 51.371.935 - 51.411.248
Synonym name
  • Human liver glycogen phosphorylase
  • Synonym symbol(s) GSD6, HLGP
    EC.number 2.4.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 39.31 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2757 - 813 - 2002 12204691
    20 - 2859 - 847 - 2002 12204691
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Skin/Tegumentskin   highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • phosphorylase, involved in glycogen catabolism
  • catalyze the breakdown of glycogen to glucose-1-phosphate for glycolysis
  • important allosteric enzyme in carbohydrate metabolism
  • catalyzes the breakdown of glycogen to maintain serum glucose levels and is a therapeutic target for diabetes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CREB3L3 regulates the rhythmic expression of the genes encoding the rate-limiting enzymes for glycogenolysis and gluconeogenesis, including PYGL, PCK1, and G6PC
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD6A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS