|Description:||Rabbit polyclonal antibody to RYR2.|
|Immunogen:||A synthetic peptide of human RYR2|
|Formulation:||PBS with 0.02% sodium azide, 50% glycerol, pH7.3.|
|Synonyms:||ARVC2; ARVD2; VTSIP; RYR2|
|Background:||RYR2 belongs to the ryanodine receptor family. RYR2 provides communication between transverse-tubules and sarcoplasmic reticulum. Contraction of cardiac muscle is triggered by release of calcium ions from SR following depolarization of T-tubules. Defects in RYR2 are the cause of familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) which known as arrhythmogenic right ventricular cardiomyopathy 2 (ARVC2). Defects in RYR2 are the cause of catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) which known as stress-induced polymorphic ventricular tachycardia (VTSIP).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]|
|Storage:||Store at -20℃. Avoid freeze / thaw cycles.|
|Recommended Dilutions:||WB 1:500 - 1:2000|
Target (Information from UniProt)
|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.|
|Tissue Specificity:||Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta.|
|Involvement in Disease:||Arrhythmogenic right ventricular dysplasia, familial, 2: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT1 inheritance is autosomal dominant.
|Sequence Similarities:||Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily.|
|Post-Translational Modification:||Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2808 and Ser-2814 increases the open probability of the calcium channel. Phosphorylation is increased in failing heart, leading to calcium leaks and increased cytoplasmic Ca(2+) levels.|
|Cellular Location:||Sarcoplasmic reticulum membrane. Membrane. Sarcoplasmic reticulum.
The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.
Western blot analysis of extracts of Mouse heart cells,using RYR2 antibody.