CHRND
Description
The CHRND gene, located on chromosome 2, encodes the alpha subunit of the nicotinic acetylcholine receptor (nAChR), a crucial protein involved in neurotransmission. This receptor is expressed primarily in skeletal muscle, where it mediates muscle contraction by binding acetylcholine, a neurotransmitter. The nAChR is a transmembrane protein with five subunits, and the alpha subunit plays a vital role in ligand binding and channel opening. Mutations in the CHRND gene can disrupt the function of the nAChR, leading to various neuromuscular disorders.
Associated Diseases
- Congenital Myasthenic Syndromes (CMSs): A group of inherited disorders characterized by muscle weakness and fatigue.
- Slow Channel Congenital Myasthenic Syndrome (SCCMS): A specific type of CMS caused by mutations in the CHRND gene, leading to prolonged opening of the nAChR channel.
- Myasthenia Gravis (MG): An autoimmune disorder where the body produces antibodies against the nAChR, impairing neuromuscular transmission.
Did you know?
The CHRND gene is involved in the development of the neuromuscular junction, the specialized synapse between a motor neuron and a muscle fiber.
