Disease-gene associations mined from literature

Literature associating RYR1 and scoliosis

RYR1 [ENSP00000352608]

Ryanodine receptor 1; 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 . Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm . 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). ECO:0000269|PubMed:18268335, ECO:0000305|PubMed:11741831,

Synonyms:  RYR1,  RYR1p,  hRYR1,  M0QZY3,  M0R014 ...

Linkouts:  STRING  Pharos  UniProt  OMIM