MUSK

Description

The MUSK gene provides instructions for making a protein called muscle-specific kinase, which is crucial for the formation and function of neuromuscular junctions. These junctions are essential for transmitting signals from motor neurons to skeletal muscles, allowing for voluntary movement. MUSK protein acts as a receptor, binding to a protein called agrin released from motor neurons. This binding triggers a signaling cascade that leads to the clustering of acetylcholine receptors (AChRs) at the neuromuscular junction, enabling the transmission of nerve impulses to muscles.

Associated Diseases

• Congenital Myasthenic Syndromes (CMS): A group of genetic disorders affecting neuromuscular transmission, often causing muscle weakness and fatigue.
• Myasthenia Gravis (MG): An autoimmune disorder where antibodies attack AChRs, leading to impaired neuromuscular transmission and muscle weakness.

Did you know?

Mutations in the MUSK gene are the most common cause of congenital myasthenic syndromes (CMS), affecting approximately 1 in 10,000 newborns.