Symbol
| ABCG5
| contributors: mct - updated : 03-11-2015
|
HGNC name
| ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)
|
HGNC id
| 13886
|
corresponding disease(s)
|
STSL
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --over
|  
|
increased ABCA1, ABCG5, and ABCG8 expression in cholesterol-related gallbladder diseases (CAGD)  | |
Susceptibility
|
to myocardial infarction (MI) versus gallstone disease |
Variant & Polymorphism
other
| 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
| | | |
| 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  |