CASQ1, Official Symbol CASQ1provided by HGNC Official Full Name calsequestrin 1provided by HGNC Primary source HGNC:HGNC:1512 See related Ensembl:ENSG00000143318 MIM:114250; AllianceGenome:HGNC:1512 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CASQ; CSQ1; PDIB1; VMCQA 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] Expression Biased expression in esophagus (RPKM 21.8), prostate (RPKM 18.0) and 6 other tissues See more Orthologs mouse all