Ryanodine receptor 2

Ryanodine receptor 2

Ryanodine receptor 2 (cardiac)
Identifiers
RYR2 Gene
Orthologs
SpeciesHumanMouse

Ryanodine receptor 2 (RYR2) is a protein found primarily in cardiac muscle. In humans, it is encoded by the RYR2 gene.[1][2][3]

Function

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.[4] RYR2 channels control many cellular functions, including mitochondrial metabolism, gene expression and cell survival, in addition to their most studied role in cardiomyocyte contraction.[5]


Clinical significance

Mutations in the RYR2 gene are associated with catecholaminergic polymorphic ventricular tachycardia, stress-induced polymorphic ventricular tachycardia, and arrhythmogenic right ventricular dysplasia.[6]

Mice with genetically reduced Ryr2 exhibit a lower basal heart rate and fatal arrythmias.[7]


See also

Interactions

Ryanodine receptor 2 has been shown to interact with:

References

Further reading

External links

  • 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)