靶标:
CASQ1
产品别名:
CASQ; PDIB1; VMCQA; CASQ1; calsequestrin 1; calsequestrin 1; calsequestrin-1; calmitin; calmitine; calsequestrin 1 (fast-twitch, skeletal muscle); 肌钙集蛋白/收钙素;
背景信息:
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],