CHRNB1

CHRNB1 is a gene that encodes the beta-1 subunit of the nicotinic acetylcholine receptor. This receptor is a type of ion channel that is activated by the neurotransmitter acetylcholine. The CHRNB1 gene is located on the long arm of chromosome 17 (17p13.1).

Structure

The CHRNB1 gene spans approximately 6.5 kilobases and contains 10 exons. The encoded protein is composed of 502 amino acids and has a molecular weight of approximately 57 kilodaltons. The protein is a member of the ligand-gated ion channel protein family and is composed of five subunits, two alpha subunits and three beta subunits.

Function

The nicotinic acetylcholine receptors are located in the synaptic cleft of neurons and are involved in the transmission of signals across the synapse. When acetylcholine binds to the receptor, it causes the channel to open, allowing ions to flow across the cell membrane. This results in a change in the electrical potential of the neuron, leading to the transmission of a signal.

Clinical significance

Mutations in the CHRNB1 gene have been associated with a number of neurological disorders, including congenital myasthenic syndrome, a condition characterized by muscle weakness and fatigue. In addition, some studies have suggested a link between variations in the CHRNB1 gene and susceptibility to nicotine addiction.

See also

• Nicotinic acetylcholine receptor
• Congenital myasthenic syndrome
• Chromosome 17