CHRNA1

Description

The CHRNA1 gene provides instructions for making the alpha-1 subunit of the nicotinic acetylcholine receptor (nAChR). This receptor is a protein complex found on the surface of nerve cells (neurons) and muscle cells. It plays a critical role in transmitting signals across synapses, the junctions between nerve cells. When acetylcholine, a neurotransmitter, binds to the nAChR, it triggers a cascade of events that leads to muscle contraction or the transmission of nerve impulses. Mutations in the CHRNA1 gene can disrupt the function of the nAChR, leading to a range of neurological and muscular disorders.

Associated Diseases

• Myasthenia gravis
• Congenital myasthenic syndromes (CMSs)
• Epilepsy
• Alzheimer‘s disease
• Schizophrenia
• Addiction (particularly to nicotine)
• Attention-deficit/hyperactivity disorder (ADHD)

Did you know?

The CHRNA1 gene is highly expressed in the brain, particularly in areas involved in learning, memory, and reward.