EFHD1 - EF-hand domain family member D1 Gene

中文名称：EF-手域家族成员 D1

种属: Homo sapiens

同用名: SWS2; MST133; PP3051; MSTP133

关于 EFHD1

功能概要

该基因编码钙结合蛋白 EF-hand 超家族的一个成员，该家族参与多种细胞过程，包括有丝分裂、突触传递和细胞骨架重排。该基因编码的蛋白质由一个 N 端无序区域、富含脯氨酸的元件、两个 EF 手和一个 C 端卷曲螺旋结构域组成。这种蛋白质已被证明与线粒体内膜相关，并且在 HeLa 细胞中，充当线粒体闪光激活的新型线粒体钙离子传感器。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 7 月]

This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including Mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]