CHRNA4: Difference between revisions

CHRNA4
Symbol	CHRNA4
HGNC ID	1958
Alternative symbols	–
Entrez Gene	1137
OMIM	118504
RefSeq	NM_000744
UniProt	P43681
Chromosome	20q13.33
Locus supplementary data	–

Latest revision as of 17:32, 30 December 2024

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.

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)

@@ Line 1: / Line 1: @@
-'''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 ==
+{{Infobox gene
-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.
+| name = CHRNA4
+| image = <!-- Image removed -->
+| caption = <!-- Caption removed -->
+| HGNCid = 1958
+| symbol = CHRNA4
+| alt_symbols = nAChRα4
+| EntrezGene = 1137
+| OMIM = 118504
+| RefSeq = NM_000744
+| UniProt = P43681
+| chromosome = 20
+| arm = q
+| band = 13.33
+}}
+'''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 ==
-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.
+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 ==
+== 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).
+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]].
-[[File:CHRNA4 gene location on human chromosome 20.png|thumb|right|300px|Location of the CHRNA4 gene on human chromosome 20.]]
+== Research ==
+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 ==
+== See Also ==
 * [[Nicotinic acetylcholine receptor]]
-* [[Ionotropic receptor]]
+* [[Ligand-gated ion channel]]
-* [[Neurotransmission]]
+* [[Neurotransmitter]]
-* [[Muscle contraction]]
+* [[Cognitive function]]
-* [[Memory]]
-* [[Learning]]
-* [[Autosomal dominant nocturnal frontal lobe epilepsy]]
-* [[Attention deficit hyperactivity disorder]]
 == References ==
 <references />
+== External Links ==
+* [CHRNA4 Gene - Genetics Home Reference](https://ghr.nlm.nih.gov/gene/CHRNA4)
+* [CHRNA4 - GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA4)
 [[Category:Genes on human chromosome 20]]
-[[Category:Ionotropic receptors]]
+[[Category:Ion channels]]
-[[Category:Neurotransmission]]
+[[Category:Neurotransmitter receptors]]
-[[Category:Memory]]
-[[Category:Learning]]
-[[Category:ADHD]]
 [[Category:Epilepsy]]
-{{Genes on human chromosome 20}}
-{{Ionotropic receptors}}
-{{Neurotransmission}}
-{{Memory and learning}}
-{{ADHD}}
-{{Epilepsy}}
-{{medicine-stub}}