Calcium channel that mediates the release of Ca2+ from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca2+ leaking into the cytoplasm. Can also mediate the release of Ca2+ from intracellular stores in neurons, and may thereby promote prolonged Ca2+ signaling in the brain. Required for normal bryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during bryogenesis .
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.Bohm J., Leshinsky-Silver E., Vassilopoulos S., Le Gras S., Lerman-Sagie T., Ginzberg M., Jost B., Lev D., Laporte J.Acta Neuropathol. 124:575-581(2012)
Research Topic:Transport