RYR1 gene plays a pivotal role in muscle contcations. This gene produces a protein called ryanodine receptor 1. This protein is a protein in the sarcoplasmic reticulum, forming a channel in the reticulum membrane, the ryanodine channel, which controls calcium transport, an important step in controlling muscle contractions (skeletal muscles). Muscle contractions are triggered by the flow of positively charged ions, including calcium, into muscle cells. When muscles are at rest, calcium ions are stored in the sarcoplasmic reticulum (cellular structure) inside each muscle cell. In response to certain signals, the RYR1 channel releases calcium ions from the sarcoplasmic reticulum into the (cytoplasm. The resulting increase in calcium ion concentration stimulates muscle fibers to contract, allowing the body to move.Mutation in the gene results in a defective channel protein and allows the release of high amounts of calcium ion relative to the normal channel.
