Ryanodine Receptor 1, Skeletal (RYR1)

Ryanodine receptor 1 is 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.

Communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules.Skeletal muscle and brain (cerebellum and hippocampus).