RYR1

Ryanodine receptor 1 (RYR-1) also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is a is_associated_with::protein found primarily in is_associated_with::skeletal muscle. In humans, it is encoded by the RYR1 is_associated_with::gene.

Function
RYR1 functions as a calcium release channel in the sarcoplasmic reticulum, as well as a connection between the sarcoplasmic reticulum and the is_associated_with::transverse tubule.

Clinical significance
Mutations in the RYR1 gene are associated with is_associated_with::malignant hyperthermia susceptibility, is_associated_with::central core disease, minicore myopathy with external ophthalmoplegia and samaritan myopathy, a benign congenital myopathy. Alternatively spliced transcripts encoding different isoforms have been demonstrated. is_associated_with::Dantrolene may be the only known drug that is effective during cases of malignant hyperthermia.

Interactions
RYR1 has been shown to interact with:
 * is_associated_with::calmodulin
 * is_associated_with::FKBP1A
 * is_associated_with::HOMER1
 * is_associated_with::HOMER2
 * is_associated_with::HOMER3 and
 * is_associated_with::TRDN.