Gene: CASQ1

Alternate names for this Gene: CASQ|PDIB1|VMCQA

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.2

Description of this Gene: calsequestrin 1

Type of Gene: protein-coding

rs140253806 in CASQ1 gene and MYOPATHY, TUBULAR AGGREGATE, 1 PMID 28895244 2017 Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.