RYR1 Gene

RYR1 Gene

The RYR1 gene provides instructions for making a protein called ryanodine receptor 1 (also called the RYR1 channel). This protein is part of a group of related proteins called ryanodine receptors, which form channels that, when activated, release positively charged calcium atoms from storage within cells. RYR1 channels play a critical role in skeletal muscles. Mutations in the RYR1 gene are associated with malignant hyperthermia susceptibility, and minicore myopathy. 

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