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 ?
Several genes are known to affect meat quality through different roles in meat quality characteristics: the ryanodine receptor 1 (RYR1) [2], liver fatty acid-binding protein (L-FABP) [3], obesity-associated (FTO) gene [4], melanocortin receptor type 4 (MC4R) gene [5,6], POU1F1 [7-9], and protein kinase, AMP-activated and gamma 3 non-catalytic subunit (PRKAG3) [10 -12].
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.
Testing of the ryanodine receptor 1 gene (RYR1) whose mutation C11843T is associated with stress susceptibility and a decrease of some parameters of meat quality (FUJII et al.
Simultaneous identification of ryanodine receptor 1 (RYR1) and estrogen receptor (ESR) genotypes with the multiplex PCR-RFLP method in Polish Large White and Polish Landrace pigs.
Ryanodine receptor 1 (RYR1) and the dihydropyridine receptor (DHPR) are involved in the release of the calcium (Ca2+) stored in sarcoplasmic reticulum (3,4).
Porcine stress syndrome (PSS) susceptibility, has been associated with a single point mutation C1843T (Arg615Cys) in the Ca2+ release channel at the sarcoplasmic reticulum ryanodine receptor 1 (RYR1).
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).
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.
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).