CHRNB2

CHRNB2 is a gene that encodes the beta-2 subunit of the nicotinic acetylcholine receptor. This receptor is a type of ionotropic receptor that is activated by the neurotransmitter acetylcholine. The CHRNB2 gene is located on the short arm of chromosome 1 (1p36.33) in humans.

Structure

The CHRNB2 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 forms a pentameric structure with other subunits of the nicotinic acetylcholine receptor.

Function

The beta-2 subunit of the nicotinic acetylcholine receptor, encoded by the CHRNB2 gene, is a crucial component of the receptor complex. It contributes to the formation of the ligand-binding site and is involved in the gating mechanism of the ion channel. When acetylcholine binds to the receptor, it triggers a conformational change that opens the ion channel, allowing the flow of ions across the cell membrane. This ion flow generates an electrical signal that is transmitted to the nervous system.

Clinical significance

Mutations in the CHRNB2 gene have been associated with various neurological disorders. For example, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) has been linked to mutations in this gene. ADNFLE is a rare form of epilepsy characterized by clusters of nocturnal motor seizures. Other conditions associated with CHRNB2 mutations include idiopathic generalized epilepsy and certain types of schizophrenia.

See also

• Nicotinic acetylcholine receptor
• Ionotropic receptor
• Acetylcholine
• Chromosome 1
• Autosomal dominant nocturnal frontal lobe epilepsy