RYR1

(redirected from Skeletal Muscle Ryanodine Receptor)
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RYR1

A gene on chromosome 19q13.1 that encodes a ryanodine receptor found in skeletal muscle, which acts as a calcium channel connecting the sarcoplasmic reticulum and transverse tubules.

Molecular pathology
RYR1 mutations are linked to malignant hyperthermia susceptibility, central core disease and minicore myopathy with external ophthalmoplegia.
References in periodicals archive ?
Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.