CAPNS1 - calpain small subunit 1 Gene

中文名称：钙蛋白酶小亚基 1

种属: Homo sapiens

同用名: CANP; CDPS; CSS1; CANPS; CAPN4; CALPAIN4

关于 CAPNS1

功能概要

该基因是钙蛋白酶小亚基家族的成员。钙蛋白酶是钙依赖性半胱氨酸蛋白酶，广泛分布于哺乳动物细胞中。钙蛋白酶以异二聚体的形式运作，包含一个特定的大催化亚基 (钙蛋白酶 I 中的钙蛋白酶 1 亚基和钙蛋白酶 II 中的钙蛋白酶 2 亚基) 和一个由该基因编码的常见小调节亚基。这种编码的蛋白质对于钙蛋白酶异二聚体的稳定性和功能至关重要，其蛋白水解活性影响各种细胞功能，包括细胞凋亡、增殖、迁移、粘附和自噬。钙蛋白酶与神经退行性过程有关，例如强直性肌营养不良。已在 1 号染色体上定义了该基因的假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 10 月]

This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including Apoptosis, proliferation, migration, adhesion, and Autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]