RYR1
RYR1 (ryanodine receptor 1) encodes the calcium-release channel of the skeletal-muscle sarcoplasmic reticulum, which triggers muscle contraction by releasing stored calcium in response to nerve stimulation. Pathogenic RYR1 variants cause the channel to release calcium uncontrollably when exposed to volatile anesthetic gases or succinylcholine, producing malignant hyperthermia, a life-threatening hypermetabolic reaction, and are also a cause of central core disease.
Traits RYR1 shapes
Reference databases
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