RYR1

(redirected from ryanodine receptor 1)

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 ?
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
MH is autosomally dominant inherited and over 200 mutations have been identified in the ryanodine receptor 1 (RYR1) gene, which is expressed in skeletal muscle (4,6).
CCD and MH both have autosomal dominant inheritance and more than 100 MH- and CCD-associated mutations have been reported in the ryanodine receptor 1 (RYR1) gene of skeletal muscle (3).