菜单 基因医生

这个基因是钙调素基因家族的一员。有三个不同的钙调蛋白基因散布在整个基因组中，编码相同的蛋白质，但在核苷酸水平上不同。钙调素（Calmodulin）是一种钙结合蛋白，在信号传导途径、细胞周期进展和增殖中发挥作用一些严重形式的长QT综合征（LQTS）婴儿表现出危及生命的室性心律失常，同时伴有神经发育迟缓和癫痫，被发现在该基因或钙调素基因家族的另一成员中存在突变（PMID:23388215）这种基因的突变也在较轻形式的LQTS患者中被发现（PMID:24917665），而另一个钙调素基因家族成员的突变与儿茶酚胺能多态性室性心动过速（CPVT）有关（PMID:23040497）一种罕见的疾病被认为是导致年轻人心脏病猝死的重要原因这个基因的假基因存在于第10、13和17号染色体上选择性剪接导致编码不同亚型的多个转录变体[由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]