Gene Symbol | RYR2 |
Entrez Gene ID | 6262 |
Full Name | ryanodine receptor 2 |
Synonyms | ARVC2,ARVD2,RYR-2,RyR,VTSIP |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3); Arrhythmogenic right ventricular dysplasia 2, 600996 (3) |