PLEKHM2 - pleckstrin homology and RUN domain containing M2 Gene

中文名称：含 pleckstrin 同源性和 RUN 结构域 M2

种属: Homo sapiens

同用名: SKIP

关于 PLEKHM2

功能概要

该基因编码一种蛋白质，该蛋白质结合加端定向微管运动蛋白驱动蛋白以及溶酶体 GTP 酶 Arl8，并且是溶酶体从微管组织中心分布出去所必需的。编码的蛋白质属于调节溶酶体定位的多亚基 BLOC-one 相关复合物。它结合一种称为沙门氏菌诱导丝 A 的沙门氏菌效应蛋白，是沙门氏菌发病机制中的关键宿主决定因素。它具有一个结构域结构，由一个 N 端 RPIP8、UNC-14 和 NESCA (RUN) 结构域组成，结合驱动蛋白 1 和溶酶体 GTP 酶 Arl8，以及一个 C 端 pleckstrin 同源结构域，结合沙门氏菌诱导的细丝一种效应蛋白。该基因中自然发生的突变会导致溶酶体异常定位、自噬通量受损，并与隐性扩张型心肌病和左心室致密化不全相关。[RefSeq 提供，2017 年 2 月]

This gene encodes a protein that binds the plus-end directed microtubule motor protein Kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired Autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]