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Gene Review:

RYR2 - ryanodine receptor 2 (cardiac)

Sus scrofa

Fruen, B.R. et al., Ledbetter, M.W. et al., Leeb, T. et al.

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High impact information on RYR2

A ryr1 RT-PCR product was identified in skeletal muscle and esophagus, a ryr2 RT-PCR product was identified in cardiac muscle, aorta and esophagus, and a ryr3 RT-PCR product was identified in skeletal and cardiac muscle, aorta, esophagus, adrenal gland, small intestine, and lung [1].
CaM inhibition of the RYR2 was nonetheless abolished by each of four mutations targeting individual CaM Ca2+ sites [2].
One YAC clone harboring parts of the porcine cardiac muscle ryanodine receptor (RYR2) gene allowed us to assign this locus to Chromosome (Chr) 14q22-q23 [3].

Regulatory relationships of RYR2

Furthermore, a mutant CaM deficient in Ca2+ binding at all four Ca2+ sites significantly activated the RYR2 and acted as a competitive inhibitor of RYR2 regulation by wild-type Ca2+CaM [2].

References

Tissue distribution of ryanodine receptor isoforms and alleles determined by reverse transcription polymerase chain reaction. Ledbetter, M.W., Preiner, J.K., Louis, C.F., Mickelson, J.R. J. Biol. Chem. (1994) [Pubmed]
Regulation of the RYR1 and RYR2 Ca2+ release channel isoforms by Ca2+-insensitive mutants of calmodulin. Fruen, B.R., Black, D.J., Bloomquist, R.A., Bardy, J.M., Johnson, J.D., Louis, C.F., Balog, E.M. Biochemistry (2003) [Pubmed]
Construction of a porcine YAC library and mapping of the cardiac muscle ryanodine receptor gene to chromosome 14q22-q23. Leeb, T., Rettenberger, G., Hameister, H., Brem, G., Brenig, B. Mamm. Genome (1995) [Pubmed]

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