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ABCA 1是ATP结合盒 (ABC)转运子超家族成员。ABCA 1基因的表达受到多种代谢物的严格调控。ABCA 1基因的突变引起Tangier病 (TD)。胆固醇逆向转运清除组织过量的胆固醇 ,防止动脉粥样硬化(AS)的产生。而细胞内胆固醇的流出是胆固醇逆向转运的限速步骤 ,ABCA 1促进胆固醇的流出而参与胆固醇的逆向转运过程。TD杂合子和转ABCA 1基因的研究证实 ,ABCA 1具有防止早期AS的作用。ABCA 1激活剂已成为临床上预防和治疗AS的新靶点。
ABCA 1 is a member of the ATP-binding cassette (ABC) transporter superfamily. The expression of the ABCA 1 gene is tightly regulated by a variety of metabolites. Mutations in the ABCA 1 gene cause Tangier’s disease (TD). Reverse cholesterol transport removes excess cholesterol and prevents the development of atherosclerosis (AS). The intracellular cholesterol efflux is the rate-limiting step in reverse cholesterol transport. ABCA 1 promotes the efflux of cholesterol and participates in the reverse transport of cholesterol. Studies of TD heterozygotes and ABCA 1 genes confirm that ABCA 1 has an effect of preventing early AS. ABCA 1 activator has become a new target for the clinical prevention and treatment of AS.