🧬 基因注释：CASQ1
📝 官方信息
官方名称：calsequestrin 1
功能摘要：This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013].
🎯 作为靶基因的剪接因子
- Mbnl2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录