CHRNA2

CHRNA2 is a gene that encodes the alpha-2 subunit of the nicotinic acetylcholine receptor (nAChR). The nAChR is a type of ionotropic receptor that is activated by the neurotransmitter acetylcholine. The CHRNA2 gene is located on the long arm of chromosome 8 (8q21.3).

Function

The CHRNA2 gene is part of a family of genes that encode the subunits of the nicotinic acetylcholine receptors. These receptors are found in the central nervous system and play a crucial role in neurotransmission. The alpha-2 subunit encoded by the CHRNA2 gene is one of several different subunits that can combine to form a functional nAChR. The specific combination of subunits determines the receptor's functional properties, such as its sensitivity to different neurotransmitters and drugs.

Clinical significance

Mutations in the CHRNA2 gene have been associated with a variety of neurological disorders. For example, a rare mutation in this gene has been linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a form of epilepsy characterized by nocturnal seizures that originate in the frontal lobe of the brain. Other studies have suggested a possible association between variations in the CHRNA2 gene and susceptibility to nicotine addiction and schizophrenia, although more research is needed to confirm these findings.

See also

• Nicotinic acetylcholine receptor
• Ionotropic receptor
• Neurotransmission
• Chromosome 8