This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Alternative Names
calcium release channel central core disease of muscle channel ryr1 ion channel protein phosphatase 1 regulatory subunit 137 Ryanodine receptor ryanodine receptor 1 (skeletal) ryanodine receptor 1 skeletal muscle ryanodine receptor 1-like skeletal muscle sarcoplasmic reticulum calcium release channel skeletal muscle calcium release channel skeletal muscle ryanodine receptor skeletal muscle-type ryanodine receptor type 1 ryanodine receptor type 1-like ryanodine receptor