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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
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