This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac...
RYR2基因突变因子与药物介绍 该基因编码在心肌肌浆网中发现的ryanodine受体编码蛋白是钙通道的组成部分之一,由ryanodine受体蛋白四聚体和fk506结合蛋白1b蛋白四聚体组成,它们向心肌提供钙。该基因突变与应激诱导的多形性室性心动过速和致心律失常的右心室发育不良有关。[由RefSeq提供,2008年7月] This gene encodes a...
METHODS: We employed a ryanodine receptor 2 (RyR2) mutant mouse model harboring the R4496C+/- mutation that markedly increases the channel’s open probability (Po) to determine the impact of increased RyR2 activity in neuronal function without AD gene mutations. RESULTS: Genetically increasing RyR2...
Results: Genomic DNA analysis found a previously unidentified point mutation of the RYR2 gene, specifically c.12244G>C, resulting in a missense mutation from glutamic acid to glutamine, leading to a conformational change suspected to sensitize RYR2 to Ca2+ activation. Influenza virus is known ...
对先证者外周静脉血提取dna进行高通量测序,将高通量测序结果在hgmd数据库中进行序列比对,并对omim数据库中所有明确致病关系的基因进行逐个分析,结合genecards数据库分析基因的功能,确定候选突变基因为ryr2。其次,对家系成员基因组dna中ryr2基因突变区域进行pcr扩增,通过sanger测序验证突变位点。筛选和验证突变的基因位点,发...
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is associated with mutations in RyR2 gene. Here we review the molecular pathophysiology of RyR2-associated CPVT and the innovative therapeutic strategies. The new therapeutic strategy targeting RyR2 might apply not only to patients with CPVT, but...
在患CPVT的患者中,强体力活动和/或应激诱导了双向的和/或多形性室性心动过速,这会在没有可检测的结构性心脏病的情况下导致SCD(Laitinen等人,Mutations of thecardiac ryanodine receptor(RyR2)gene in familial polymorphicventricular tachycardia.Circulation,103485-90,2001;Leenhardt等人,Catecholaminergic polymorphic ...
composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided ...
Figure . Gene Sequencing (extract) Figure. SDS-PAGE [ IMPORTANT NOTE ] The kit is designed for research use only, we will not be responsible for any issue if the kit was used in clinical diagnostic or any other procedures. 特别提示:本公司的所有产品仅可用于科研实验,严禁用于临床医疗及其他非...
Gene ID (NCBI) 6262 RRID AB_2923952 Conjugate CoraLite® Plus 647 Fluorescent Dye Excitation/Emission Maxima Wavelengths 654 nm / 674 nm Form Liquid Purification Method Antigen affinity purification Storage Buffer PBS with 50% Glycerol, 0.05% Proclin300, 0.5% BSA, pH 7.3. Storage Conditions St...