Human Ryanodine Receptor 1, RYR1 ELI

Calcium Channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed: 11741831, PubMed: 16163667).

Repeated very high-level exercise increases the open probability of the Channel and leads to Ca(2+) leaking into the cytoplasm (PubMed: 18268335).

Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain.

Required for normal embryonic development of muscle fibers and skeletal muscle.

Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity).