RYR2
Description
The RYR2 gene provides instructions for making a protein called the ryanodine receptor 2, a calcium channel crucial for muscle contraction. Located in the sarcoplasmic reticulum (SR) of muscle cells, RYR2 acts as a gatekeeper, releasing calcium ions into the cytoplasm upon stimulation, triggering muscle contraction. This intricate process is essential for normal muscle function, impacting various bodily movements from walking to breathing.
Associated Diseases
- Central core disease
- Multi-minicore disease
- Brody disease
- Hypokalemic periodic paralysis
- Malignant hyperthermia
- Congenital myopathy with fiber-type disproportion
Did you know?
Mutations in the RYR2 gene can lead to a rare but serious condition called malignant hyperthermia, a life-threatening reaction to certain anesthetics.
