Gene RYR1

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Also known as

CCO, KDS, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR

Overview

RYR1 (ryanodine receptor 1) is a gene that codes for a protein called the ryanodine receptor, which plays a key role in the regulation of muscle contraction. The ryanodine receptor is found in the sarcoplasmic reticulum (SR) of muscle cells and controls the release of calcium ions from the SR into the cytosol, which triggers muscle contraction. Mutations in the RYR1 gene have been linked to several muscle disorders, including malignant hyperthermia, a potentially life-threatening condition that can occur during anesthesia, and central core disease, a milder form of muscular dystrophy.

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