RYR2


Also found in: Acronyms.

RYR2

The gene that encodes a ryanodine receptor protein for a calcium channel in the sarcoplasmic reticulum of heart muscle. RYR2 mutations are associated with catecholaminergic polymorphic ventricular tachycardia, stress-induced polymorphic ventricular tachycardia, and exercise-induced sudden cardiac death and arrhythmogenic right ventricular dysplasia.
References in periodicals archive ?
Unfortunately, DHPLC can be successfully applied to only 48 of 53 critical RYR2 exons because of unfavorable nucleotide composition in some amplicons.
In the present study, performed on 22 isolated individuals with effort-induced polymorphic ventricular arrhythmias, we detected four putative pathogenic RYR2 mutations among 48 critical RYR2 exons suitable for DHPLC analysis.
However, all four novel RYR2 mutations reported here involve highly conserved amino acids and map to functionally important regions of the channel, such as the FKBP12.
Thirteen SNPs were detected by DHPLC in RYR2 amplicons from patients considered in this study.
Therefore, in patients with effort-induced polymorphic ventricular arrhythmias, the entire RYR2 gene should be screened for mutations.