Ryanodine receptor 2
|Ryanodine receptor 2 (cardiac)|
The RYR2 protein functions as a component of a calcium channel that supplies ions to the cardiac muscle. The channel is composed of RYR2 tetramers and FK506-binding proteins found in a 1:4 stoichiometric ratio. Calcium channel function is affected by the specific type of FK506 isomer interacting with the RYR2 protein, due to binding differences and other factors. RYR2 channels control many cellular functions, including mitochondrial metabolism, gene expression and cell survival, in addition to their most studied role in cardiomyocyte contraction.
Mutations in the RYR2 gene are associated with catecholaminergic polymorphic ventricular tachycardia, stress-induced polymorphic ventricular tachycardia, and arrhythmogenic right ventricular dysplasia.
Mice with genetically reduced Ryr2 exhibit a lower basal heart rate and fatal arrythmias.
Ryanodine receptor 2 has been shown to interact with:
- GeneReviews/NCBI/NIH/UW entry on Catecholaminergic Polymorphic Ventricular Tachycardia
- GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- Medical Subject Headings (MeSH)
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