| Gene Symbol | CASQ1 |
| Entrez Gene ID | 844 |
| Full Name | calsequestrin 1 |
| Synonyms | CASQ,PDIB1,VMCQA |
| General protein information |
|
| 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) |

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