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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 embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis.
Gene Name: | ryanodine receptor 1 (skeletal) |
Family/Subfamily: | Ion Channel , Ryanodine receptor |
Synonyms: | RYR1, CCO, Central core disease of muscle, MHS, RYDR, Ryanodine receptor type 1, RYR-1, SKRR, Type 1 ryanodine receptor, Ryanodine receptor 1, Ryanodine receptor type1, MHS1, RyR, Type 1-like ryanodine receptor |
Target Sequences: | NM_000540 NP_000531.2 P21817 |
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