CASQ1 Antibody – Mouse Monoclonal

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]

calsequestrin 1: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2) binds approximately 60 Ca(2+). Belongs to the calsequestrin family.

Protein type: Calcium-binding; Mitochondrial

Chromosomal Location of Human Ortholog: 1q21

Cellular Component: Golgi apparatus; I band; sarcoplasmic reticulum membrane; sarcoplasmic reticulum lumen; smooth endoplasmic reticulum; sarcoplasmic reticulum; mitochondrion; endoplasmic reticulum; mitochondrial matrix; T-tubule

Molecular Function: calcium ion binding

Biological Process: endoplasmic reticulum organization and biogenesis; protein polymerization; response to organic substance; regulation of skeletal muscle contraction via regulation of the release of sequestered calcium ion; regulation of sequestering of calcium ion; skeletal muscle development; response to heat; sarcomere organization; response to denervation involved in regulation of muscle adaptation; transmembrane transport

Disease: Myopathy, Vacuolar, With Casq1 Aggregates