Anti-Ryanodine Receptor antibody (ab78378)

Relevance

The Ryanodine Receptor (RyR) is the channel responsible for calcium release from muscle cell Sarcoplasmic Reticulum (SR) and also plays a role in calcium regulation in non-muscle cells. The RyR exists as a homotetramer and is predicted to have a short cytoplasmic C-terminus and 4-10 transmembrane domains. The remainder of the protein, termed the "foot" region, is located in the cytoplasm between the transverse tubule and the SR. Mammalian RyR isoforms are the product of three different genes: RyR-1 is expressed predominantly in skeletal muscle and areas of the brain; RyR-2 is expressed predominantly in heart muscle but also found in the stomach, endothelial cells and diffuse areas of the brain; and RyR-3 is found in smooth muscle and the brain (striatum, thalamus and hippocampus). In non-mammalian vertebrates, the RyR isoforms are termed alpha, beta and cardiac which correlate loosely to the mammalian RyR-1, RyR-3 and RyR-2 isoforms respectively. Defects in the RYR2 gene are the cause of several heart diseases: 1) familial arrhythmogenic right ventricular dysplasia 2 (ARVD2), also known as arrhythmogenic right ventricular cardiomyopathy 2 (ARVC2), 2) an autosomal dominant form of stress-induced polymorphic ventricular tachycardia (VTSIP), also known as catecholaminergic polymorphic ventricular tachycardia (CPVT) and 3) familial polymorphic ventricular tachycardia (FPVT). Ryanodine Receptor 2 contains several phosphorylatable sites. Specifically, Ser-2030 and Ser-2809 (or at Ser-2808 depending on the species) can be phosphoryated by protein kinase A (PKA) and Ser-2815 (or at Ser-2814 depending on the species) can be phosphorylated by CaMKII (Ca2+/calmodulin-dependent protein kinase II).

Cellular localization

Membrane; Multi-pass membrane protein

Alternative names

Database links