DISEASES

Disease-gene associations mined from literature

Literature associating RYR1 and arrhythmogenic right ventricular cardiomyopathy

RYR1 [ENSP00000352608]

Skeletal muscle calcium release channel; 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); Protein phosphatase 1 regulatory subunits

Synonyms:  RYR1,  RYR1p,  hRYR1,  B4DET7,  M0QZY3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM