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FLASH GENE
Symbol GANAB contributors: mct - updated : 29-06-2016
HGNC name glucosidase, alpha; neutral AB
HGNC id 4138
Corresponding disease
PKLD Polycystic Kidney and Liver Disease
Location 11q12.3      Physical location : 62.392.299 - 62.414.104
Synonym name
  • Neutral alpha-glucosidase AB
  • alpha glucosidase II alpha subunit
  • Synonym symbol(s) G2AN, GluII, KIAA0088, GIIA, NAG
    EC.number 3.2.1.20/ 3.2.1.84
    DNA
    TYPE functioning gene
    STRUCTURE 21.90 kb     25 Exon(s)
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3953 - 963 - 2000 10764837
    24 - 3960 107 944 - 2000 10764837
    25 - 4026 110 966 - 2000 10764837
    21 - 3518 - 830 - 2000 10764837
    23 - 3851 - 847 - 2000 10764837
    22 - 3684 - 852 - 2000 10764837
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     mouthtongue  highly
    Nervousbrain    
    Reproductivefemale systemplacenta   
     male systemtestis  highly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY family 31 of glycosyl hydrolases
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • hydrolase activity, hydrolyzing O-glycosyl compounds
  • encoding the catalytic subunit of glucosidase II (GIIA)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is required for PKD1 ER exit and maturation (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PKLD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS