CHRNA4

CHRNA4 is a gene that encodes the alpha 4 subunit of the nicotinic acetylcholine receptor. The nicotinic acetylcholine receptor is a type of ionotropic receptor that is activated by the neurotransmitter acetylcholine.

Structure

The CHRNA4 gene is located on the long arm of chromosome 20 (20q13.2-q13.3) and spans approximately 70 kilobases. The encoded protein is composed of 627 amino acids and forms a pentameric structure with other subunits to create the functional receptor.

Function

The alpha 4 subunit encoded by CHRNA4 is crucial for the normal function of the nicotinic acetylcholine receptor. This receptor is involved in various physiological processes, including neurotransmission, muscle contraction, and memory and learning processes.

Clinical significance

Mutations in the CHRNA4 gene have been associated with several neurological disorders, including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and attention deficit hyperactivity disorder (ADHD).

File:CHRNA4 gene location on human chromosome 20.png

Location of the CHRNA4 gene on human chromosome 20.

See also

• Nicotinic acetylcholine receptor
• Ionotropic receptor
• Neurotransmission
• Muscle contraction
• Memory
• Learning
• Autosomal dominant nocturnal frontal lobe epilepsy
• Attention deficit hyperactivity disorder

References

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