AGRN
Description
The AGRN gene provides instructions for making a protein called agrin. Agrin plays a crucial role in the formation and function of neuromuscular junctions, the specialized connections between nerve cells and muscle fibers. It helps to organize and stabilize the synapse, ensuring efficient transmission of nerve impulses to muscles. Mutations in the AGRN gene can disrupt these processes, leading to a range of neuromuscular disorders.
Associated Diseases
- Congenital Myasthenic Syndromes (CMS): A group of inherited disorders affecting neuromuscular transmission, causing muscle weakness and fatigue.
- Spinal Muscular Atrophy (SMA): A genetic disease characterized by progressive muscle weakness and atrophy.
- Lambert-Eaton Myasthenic Syndrome (LEMS): An autoimmune disorder affecting the release of acetylcholine, leading to muscle weakness.
- Myasthenia Gravis: An autoimmune disorder that weakens muscles by blocking acetylcholine receptors.
Did you know?
Agrin was first discovered in 1986 by researchers studying the development of the neuromuscular junction.
