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FLASH GENE
Symbol ABCG8 contributors: mct - updated : 03-11-2015
HGNC name ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)
HGNC id 13887
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal ATP binding motifs (Walker A and B)
  • an ABC-transporter signature motif (C motif)
  • six transmembrane (TM6) segments at the C terminus
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to Drosophila white
    intraspecies homolog to ABCG1
    Homologene
    FAMILY ATP binding cassette superfamily
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text
  • consistent with their function, ABCG5 and ABCG8 are located on the apical membrane of enterocytes and hepatocytes
  • basic FUNCTION
  • selective regulator of dietary cholesterol absorption, also promoting biliary excretion of sterols
  • sterol transporters may be playing a role in mediating apical cholesterol efflux in the gallbladder epithelium
  • required to modulate biliary cholesterol secretion in response to the non-cholesterol steroids cholate and diosgenin
  • bile acids may promote an active conformation of purified ABCG5/G8 either by global stabilization of the transporter or by binding to a specific site on ABCG5/G8
  • complex G5G8 mitigates the impact of a high fat diet on hepatic lipid accumulation and glucose intolerance
  • sterol transporters ABCA1, ABCG5, and ABCG8 may play a role in the pathogenesis of cholesterol-related gallbladder diseases (CAGD)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS digestion , active transport
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with ABCB6, to promote sterol excretion into bile
  • ABCG5 and ABCG8 form a complex (G5G8) that opposes the absorption of plant sterols but is also expressed in liver where it promotes the excretion of cholesterol into bile
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MDR2 (ABCD4) required for G5G8-mediated biliary sterol secretion in mouse
  • NPC2 is a positive regulator of biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport
  • SYVN1 and RNF5 may be negative regulators of disease-associated transporter ABCG5/ABCG8
  • cell & other
    REGULATION
    induced by high cholesterol diet in mice and LXR (liver orphan nuclear receptor) agonist
    ASSOCIATED DISORDERS
    corresponding disease(s) STSL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    increased ABCA1, ABCG5, and ABCG8 expression in cholesterol-related gallbladder diseases (CAGD)
    Susceptibility
  • to gallstone disease
  • to myocardial infarction (MI) versus gallstone disease
  • Variant & Polymorphism other
  • variant D19H associated to gallstone disease
  • genetic variation in ABCG5/8, which associates with decreased levels of plasma LDL cholesterol protects against MI, but increases the risk of symptomatic gallstone disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Abcg5/g8 deficiency in mice fed a chow diet markedly raises TG levels by impairing TG catabolism and by increasing liver and intestinal TG secretion
  • overexpression of ABCG5 and ABCG8 in mice retards diet-induced atherosclerosis because of reduced circulating and hepatic cholesterol