{"symbol":"CASQ1","synonyms":["PDIB1","CASQ","VMCQA"],"name":"calsequestrin 1 (fast-twitch, skeletal muscle)","description":"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]","ncbiEntrezGeneId":844,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/844","proteins":[{"symbol":"CASQ1_HUMAN","href":"/api/1.0/protein/CASQ1_HUMAN"}],"hgncRootFamilies":[{"name":"Protein disulfide isomerases (PDI)","href":"/api/1.0/gene_family/Protein+disulfide+isomerases+%28PDI%29"}]}