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 ?
Clinical and functional effects of a deletion in a COOHterminal lumenal loop of the skeletal muscle ryanodine receptor.
Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.