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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for RYR1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6261
Official gene symbolRYR1
Full nameryanodine receptor 1 (skeletal)
Aliases,CCO,MHS,MHS1,RYDR,RYR,SKRR,
Gene summaryThis 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]
LocationChromosome: 19   Locus: 19q13.1
Gene position38924340 - 39078204  Map Viewer
Gene orientationplus
Gene size153865 bp
Gene sequence
OMIM ID180901