Molecular genetics of ryanodine receptors Ca2+-release channels
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Updated: Sep 27, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Daniela Rossi1, Vincenzo Sorrentino
1Molecular Medicine Section, Department of Neuroscience, University of Siena, via Aldo Moro 5, Siena, Italy.
Abstract:
The family of ryanodine receptor (RyR) genes encodes three highly related Ca(2+)-release channels: RyR1, RyR2 and RyR3. RyRs are known as the Ca(2+)-release channels that participate to the mechanism of excitation-contraction coupling in striated muscles, but they are also expressed in many other cell types. Actually, in several cells two or three RyR isoforms can be co-expressed and interactive feedbacks among them may be important for generation of intracellular Ca(2+) signals and regulation of specific cellular functions. Important developments have been obtained in understanding the biochemical complexity underlying the process of Ca(2+) release through RyRs. The 3-D structure of these large molecules has been obtained and some regulatory regions have been mapped within these 3-D reconstructions. Recent studies have clarified the role of protein kinases and phosphatases that, by physically interacting with RyRs, appear to play a role in the regulation of these Ca(2+)-release channels. These and other recent advancements in understanding RyR biology will be the object of this review.
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