AP3M1 - adaptor related protein complex 3 subunit mu 1 Gene

中文名称：适配器相关蛋白复合物 3 亚基 mu 1

种属: Homo sapiens

关于 AP3M1

功能概要

该基因编码的蛋白质是 AP-3 的中亚基，它是一种与高尔基体区域以及更多外围细胞内结构相关的衔接子相关蛋白质复合物。 AP-3 促进囊泡从高尔基体膜出芽，它可能直接在蛋白质分选到内体/溶酶体系统中发挥作用。 AP-3 是一种异四聚体蛋白复合物，由两个大亚基 (delta 和 beta3) 、一个中亚基 (mu3) 和一个小亚基 (sigma 3) 组成。 AP-3 的一个大亚基的突变与 Hermansky-Pudlak 综合征有关，Hermansky-Pudlak 综合征是一种以溶酶体相关细胞器缺陷为特征的遗传性疾病。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2016 年 2 月]

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]