ABCA1 (ATP-binding cassette sub-family A (ABC1) member 1) is one of the most important cellular cholesterol transporters in charge of removing cholesterol from the body through cholesterol efflux. Mutations of this gene have been associated with high-density-lipoprotein (HDL) deficiency, Tangier disease and familial hypoalphalipoproteinemia.
In Chinese overweight and obese patients, the expression of ABCA1 in monocytes [...]
ABCA1 Transporter: Disease Association:
Coronary Disease:
- The R219K polymorphism of ABCA1 is related with altered lipoprotein levels, and may affect the high-density lipoprotein-cholesterol (HDL-C) response to pravastatin in Chinese patients with coronary heart disease (CHD).
(Effect of R219K polymorphism of the ABCA1 gene on the lipid-lowering effect of pravastatin in Chinese patients with coronary heart disease. Li [...]
ABCA1 Transporter: Disease Association:
Alzheimer’s Disease (AD):
- Overexpression of hydroxy-methylglutaryl-coenzyme A reductase (HMGCR) and underexpression of ABCA1 may cause increased cholesterol accumulation, Abeta production, and higher AD risk. Those with both the HMGCR (5′-UTR) GG genotype and the ABCA1 (-14) TT genotype, or the ABCA1 (-477) TT genotype may have a higher risk of having AD [...]