Full name: ryanodine receptor 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CCO; KDS; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR

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

Gene size: 153874bp

Exon count: 106