RYR1, Official Symbol RYR1provided by HGNC Official Full Name ryanodine receptor 1provided by HGNC Primary source HGNC:HGNC:10483 See related Ensembl:ENSG00000196218 MIM:180901; AllianceGenome:HGNC:10483 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CCO; KDS; MHS; RYR; MHS1; RYDR; SKRR; RYR-1; CMYP1A; CMYP1B; PPP1R137 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, Jul 2008] Expression Broad expression in prostate (RPKM 3.0), esophagus (RPKM 2.5) and 15 other tissues See more Orthologs mouse all