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.
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References in periodicals archive ?
The ryanodine receptor 1 gene maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1) [6, 10].
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].
[2] Human genes: B3GALT6, beta-1,3-galactosyltransferase 6; CSF2RA, colony stimulating factor 2 receptor alpha subunit; DNMT1, DNA (cytosine-5-)-methyltransferase 1; HSPG2, heparan sulfate proteoglycan 2; ITCH, itchy E3 ubiquitin protein ligase; NEB, nebulin; PTPRC, protein tyrosine phosphatase, receptor type C; RYR1, ryanodine receptor 1; SEPNI, selenoprotein N, 1; 76X7, T-box 1; FADD, Fas associated via death domain; FGFR3, fibroblast growth factor receptor 3; ISPD, isoprenoid synthase domain containing; RFXAP, regulatory factor X associated protein; DNM2, dynamin 2; KBTBD13, kelch repeat and BTB domain containing 13; PTH1R, parathyroid hormone 1 receptor.
The first evidence of S-nitrosation involvement in this class of pathologies involves the S-nitrosation, and the subsequent hyperactivation, of the [Ca.sup.2+] release channel ryanodine receptor 1 (RyR1).
Olthoff, "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," Clinical Genetics, vol.
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.
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., 1991) is important in swine breeding programs.
Six exons had low coverage in all samples examined by all methods [APOB (apolipoprotein B) exon 1, KCNH2 exon 13, KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) exon 1, RYR1 (ryanodine receptor 1 [skeletal]) exon 90, SCN5A (sodium channel, voltage-gated, type V, [alpha] subunit) exon 1, TGFBR1 (transforming growth factor, [beta] receptor 1) exon 1].
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.
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.