ATP结合盒转运子A1与动脉粥样硬化(1)

ATP-binding Cassette Transporter A1 and Atherosclerosis

ATP结合盒转运子A1(ABCA1)蛋白是一个由2 261个氨基酸组成的蛋白,含有2个核酸结合区,2个细胞外攀和含有6个螺旋的跨膜区。其功能是直接或间接介导胆固醇和磷脂通过细胞膜,再由载脂蛋白运走。人体50种组织中存在ABCA1 mR-NA,其转录受细胞多余胆固醇的调节,这种调节又受肝脏核受体(LXR)和视黄素受体(RXR)的调节。ABCA1不同部位的基因突变对其功能影响不同。在普通人群中ABCA1常见基因变异可能与高密度脂蛋白胆固醇水平,动脉粥样硬化发生有关。

ATP-binding cassette transporter A1(ABCA1) is a protein composed of 2 261 amino acid,It contains two nucleotide binding domains,2 large extracellular loops and a transmembrane domain containing six helixes.ABCA1 either directly or indirectly mediates transport of cholesterol and phospholipids across cellular membranes,where they are removed from cells by apolipoproteins.ABCA1 mRNA expressed in 50 tissues of human body.Transcription of ABCA1 is markedly induced by overloading cells with cholesterol.This induction occurs exclusively through activation of the nuclear receptors liver X receptor(LXRα and/or LXRβ) and retinoid X receptor(RXR).Different mutations in ABCA1 causes various disfunction.Common variations in ABCA1 could contribute to variations in HDL-C levels and atherosclerosis in the general population.