🧬 基因注释：CASQ2
📝 官方信息
官方名称：calsequestrin 2
功能摘要：The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- Srsf4 综合评分: 0.150 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录