Abca7

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is widely expressed with highest detection in spleen and hematopoietic tissues. Defects in this gene cause an increase in amyloid-beta deposits in a mouse model of Alzheimer's disease, and a related human protein is thought to play a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jan 2017]

该基因编码的蛋白质属于ATP结合盒（ABC）转运蛋白超家族。ABC蛋白负责将多种分子跨过细胞外和细胞内膜进行运输。ABC基因被划分为七个不同的亚家族（ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White）。本蛋白属于ABC1亚家族。ABC1亚家族的成员构成了在多细胞真核生物中唯一发现的主要ABC亚家族。该蛋白在体内广泛表达，其最高检测水平见于脾脏和造血组织。该基因的缺陷在阿尔茨海默病小鼠模型中会导致淀粉样β沉积增加，并且认为与之相关的人类蛋白在免疫细胞中的脂质稳态中发挥重要作用。[由RefSeq提供，2017年1月]