Gene Symbol | CASQ1 |
Entrez Gene ID | 844 |
Full Name | calsequestrin 1 |
Synonyms | CASQ,PDIB1,VMCQA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3) |