Aliases for CASQ1 Gene
External Ids for CASQ1 Gene
Previous HGNC Symbols for CASQ1 Gene
Previous GeneCards Identifiers for CASQ1 Gene
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]
GeneCards Summary for CASQ1 Gene
CASQ1 (Calsequestrin 1) is a Protein Coding gene. Diseases associated with CASQ1 include myopathy, vacuolar, with casq1 aggregates and myopathy due to calsequestrin and serca1 protein overload. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CASQ2.
UniProtKB/Swiss-Prot for CASQ1 Gene
Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction.