RYR1 : ryanodine receptor 1

Description

The RYR1 (ryanodine receptor 1) is a protein-coding gene located on chromosome 19.

The RYR1 gene provides instructions for making the ryanodine receptor 1 protein (RYR1 channel). This protein is part of a group called ryanodine receptors, which form channels that release calcium ions from cellular stores when activated. RYR1 channels are vital for skeletal muscle function. For normal movement, skeletal muscles must contract and relax in a coordinated way. Muscle contraction is initiated by an increase in calcium ion concentration inside muscle cells. RYR1 channels are located within the membrane surrounding the sarcoplasmic reticulum, which stores calcium ions when muscles are at rest. Upon receiving specific signals, RYR1 releases calcium ions from the sarcoplasmic reticulum into the cell fluid. This calcium increase stimulates muscle contraction, allowing movement. The process linking electrical signals to muscle contraction is called excitation-contraction (E-C) coupling.

The RYR1 protein acts as a calcium channel, releasing calcium from the sarcoplasmic reticulum into the muscle cell's cytoplasm. This process is essential for muscle contraction, triggered by electrical signals in the T-tubules. Intense exercise can increase the channel's openness, potentially leading to calcium leakage. RYR1 also plays a role in calcium release from neuronal stores, contributing to sustained calcium signaling in the brain. RYR1 is crucial for normal muscle fiber development, skeletal muscle formation, and proper heart, skin, and bone development during embryonic growth.

RYR1 is also known as CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR.

Associated Diseases

• Benign Samaritan congenital myopathy
• Congenital myopathy with myasthenic-like onset
• Central core disease
• Autosomal dominant centronuclear myopathy
• Autosomal recessive centronuclear myopathy
• Moderate multiminicore disease with hand involvement
• Minicore myopathy with external ophthalmoplegia
• Malignant hyperthermia, susceptibility to, 1
• Malignant hyperthermia of anesthesia
• King-Denborough syndrome
• Exercise-induced malignant hyperthermia
• Congenital multicore myopathy with external ophthalmoplegia
• Malignant hyperthermia
• Multiminicore disease
• Congenital fiber-type disproportion
• Centronuclear myopathy