CHRNA4
| Symbol | CHRNA4 |
|---|---|
| HGNC ID | 1958 |
| Alternative symbols | – |
| Entrez Gene | 1137 |
| OMIM | 118504 |
| RefSeq | NM_000744 |
| UniProt | P43681 |
| Chromosome | 20q13.33 |
| Locus supplementary data | – |
CHRNA4 is a gene that encodes the alpha-4 subunit of the nicotinic acetylcholine receptor (nAChR), which is a type of ligand-gated ion channel found in the central nervous system. This receptor is involved in the modulation of neurotransmitter release and plays a crucial role in cognitive function, memory, and attention.
Function[edit]
The CHRNA4 gene product is part of the nicotinic acetylcholine receptor complex, which is activated by the neurotransmitter acetylcholine as well as by nicotine. These receptors are pentameric, meaning they are composed of five subunits, and the alpha-4 subunit is a critical component of certain receptor subtypes, such as the α4β2 receptor, which is highly expressed in the brain.
Clinical Significance[edit]
Mutations in the CHRNA4 gene have been associated with several neurological disorders, including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). This condition is characterized by seizures that occur during sleep, particularly in the frontal lobe of the brain.
Research[edit]
Studies have shown that variations in the CHRNA4 gene may influence an individual's susceptibility to nicotine addiction and smoking behavior. Research is ongoing to better understand the role of CHRNA4 in neuropsychiatric disorders and its potential as a target for therapeutic interventions.
See Also[edit]
References[edit]
External Links[edit]
- [CHRNA4 Gene - Genetics Home Reference](https://ghr.nlm.nih.gov/gene/CHRNA4)
- [CHRNA4 - GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA4)
