CALM2 - calmodulin 2 Gene

中文名称：钙调蛋白 2

种属: Homo sapiens

同用名: caM; CALM; CAM1; CAM3; CAMC; PHKD; CAMII; LQT15; PHKD2; CALML2; CAMIII

关于 CALM2

功能概要

该基因是钙调蛋白基因家族的成员。三个不同的钙调蛋白基因分散在整个基因组中，它们编码相同的蛋白质，但在核苷酸水平上不同。钙调蛋白是一种钙结合蛋白，在信号通路、细胞周期进程和增殖中发挥作用。几名患有严重形式的长 QT 综合征 (LQTS) 的婴儿表现出危及生命的室性心律失常以及神经发育迟缓和癫痫，被发现在该基因或钙调蛋白基因家族的另一个成员 (PMID:23388215) 中有突变。在 LQTS 较轻形式的患者中也发现了该基因的突变 (PMID:24917665) ，而另一个钙调蛋白基因家族成员的突变与儿茶酚胺能多形性室性心动过速 (CPVT) (PMID:23040497) 相关，这是一种罕见的疾病被认为是年轻人中很大一部分猝死的原因。该基因的假基因存在于 10、13 和 17 号染色体上。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2015 年 3 月]

This gene is a member of the Calmodulin gene family. There are three distinct Calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the Calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another Calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]