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.