Anti-RyR-2

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.RYR2 (Ryanodine Receptor 2) is a Protein Coding gene. Diseases associated with RYR2 include Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 and Arrhythmogenic Right Ventricular Dysplasia 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cell-type Dependent Selectivity of CCK2R Signaling. GO annotations related to this gene include calcium ion binding and protein kinase binding. An important paralog of this gene is RYR3. Protein function: Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development. [The UniProt Consortium]