Aliases for RYR1 Gene
External Ids for RYR1 Gene
Previous HGNC Symbols for RYR1 Gene
Previous GeneCards Identifiers for RYR1 Gene
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]
GeneCards Summary for RYR1 Gene
RYR1 (Ryanodine Receptor 1) is a Protein Coding gene. Diseases associated with RYR1 include Malignant Hyperthermia 1 and Minicore Myopathy With External Ophthalmoplegia. Among its related pathways are Apelin signaling pathway and Presenilin-Mediated Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is RYR2.
UniProtKB/Swiss-Prot Summary for RYR1 Gene
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831, PubMed:16163667). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity).