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CASQ1

Official Full Name
calsequestrin 1
Organism
Homo sapiens
GeneID
844
Background
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]
Synonyms
CASQ; CSQ1; PDIB1; VMCQA;

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