RYR1
ryanodine receptor 1 (skeletal)
- Human(6261) 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]
- Mouse(20190) ryanodine receptor 1, skeletal muscle
- Rat(114207) ryanodine receptor 1 (skeletal)
- Domestic Rabbit(100009540) ryanodine receptor 1 (skeletal)
- naked mole-rat(101708954) ryanodine receptor 1 (skeletal)
- domestic guinea pig(100727848) ryanodine receptor 1 (skeletal)
- cow(100139857) ryanodine receptor 1 (skeletal)
- sheep(100294594) ryanodine receptor 1 (skeletal)
- sheep(101112591) ryanodine receptor 1 (skeletal)
- chicken(396112) ryanodine receptor 1 (skeletal)
- dog(606491) ryanodine receptor 1 (skeletal)
- domestic cat(101094224) ryanodine receptor 1 (skeletal)
- Horse(100034090) ryanodine receptor 1 (skeletal)
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