Gene Symbol | RYR1 |
Entrez Gene ID | 6261 |
Full Name | ryanodine receptor 1 |
Synonyms | CCO,MHS,MHS1,PPP1R137,RYDR,RYR,RYR-1,SKRR |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | {Malignant hyperthermia susceptibility 1}, 145600 (3); Central core disease, 117000 (3); Minicore myopathy with external ophthalmoplegia, 255320 (3); Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3); King-Denborough syndrome, 145600 (3) |