Gene:
ryanodine receptor 1 (skeletal)
Gene ID:
191285
Symbol:
RYR1
Species:
1000
Description:
The RYR1 gene encodes the skeletal muscle ryanodine receptor, which serves as a calcium release channel of the sarcoplasmic reticulum as well as a bridging structure connecting the sarcoplasmic reticulum and transverse tubule (MacLennan et al., 1989). See also RYR2 (MIM 180902) and RYR3 (MIM 180903), which encode the cardiac and brain ryanodine receptors, respectively.[supplied by OMIM]