Entrez gene ID | | 6261 |
Official gene symbol | | RYR1 |
Full name | | ryanodine receptor 1 (skeletal) |
Aliases | | ,CCO,MHS,MHS1,RYDR,RYR,SKRR, |
Gene summary | | 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] |
Location | | Chromosome: 19 Locus: 19q13.1 |
Gene position | | 38924340 - 39078204 Map Viewer |
Gene orientation | | plus |
Gene size | | 153865 bp |
Gene sequence |
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OMIM ID | | 180901 |