CHRNA4

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Cholinergic receptor, nicotinic, alpha 4
Identifiers
Symbol(s) CHRNA4; BFNC; EBN; EBN1; NACRA4
External IDs OMIM: 118504 MGI: 87888 HomoloGene: 592
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1137 11438
Ensembl ENSG00000101204 ENSMUSG00000027577
Uniprot P43681 Q53YK0
Refseq NM_000744 (mRNA)
NP_000735 (protein)		 NM_015730 (mRNA)
NP_056545 (protein)
Location Chr 20: 61.45 - 61.48 Mb Chr 2: 180.95 - 180.97 Mb
Pubmed search [1] [2]

Cholinergic receptor, nicotinic, alpha 4, also known as CHRNA4, is a human gene.[1]

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. After binding acetylcholine, these pentameric receptors respond by undergoing an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The protein encoded by this gene is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene appear to account for a small proportion of the cases of nocturnal frontal lobe epilepsy.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: CHRNA4 cholinergic receptor, nicotinic, alpha 4.

[edit] Further reading

  • Skorupska E, Rózycka A, Trzeciak WH (2002). "[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy]". Neurol. Neurochir. Pol. 36 (3): 513–25. PMID 12185808. 
  • Pilz AJ, Willer E, Povey S, Abbott CM (1993). "The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2.". Ann. Hum. Genet. 56 (Pt 4): 289–93. PMID 1492743. 
  • Anand R, Lindstrom J (1992). "Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans.". Genomics 13 (4): 962–7. PMID 1505988. 
  • McLane KE, Wu XD, Conti-Tronconi BM (1990). "Identification of a brain acetylcholine receptor alpha subunit able to bind alpha-bungarotoxin.". J. Biol. Chem. 265 (17): 9816–24. PMID 2351675. 
  • Steinlein OK, Mulley JC, Propping P, et al. (1995). "A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.". Nat. Genet. 11 (2): 201–3. doi:10.1038/ng1095-201. PMID 7550350. 
  • Phillips HA, Scheffer IE, Berkovic SF, et al. (1995). "Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2.". Nat. Genet. 10 (1): 117–8. doi:10.1038/ng0595-117. PMID 7647781. 
  • Monteggia LM, Gopalakrishnan M, Touma E, et al. (1995). "Cloning and transient expression of genes encoding the human alpha 4 and beta 2 neuronal nicotinic acetylcholine receptor (nAChR) subunits.". Gene 155 (2): 189–93. PMID 7721089. 
  • Steinlein O, Smigrodzki R, Lindstrom J, et al. (1995). "Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3.". Genomics 22 (2): 493–5. doi:10.1006/geno.1994.1420. PMID 7806245. 
  • Steinlein O, Weiland S, Stoodt J, Propping P (1997). "Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4).". Genomics 32 (2): 289–94. doi:10.1006/geno.1996.0119. PMID 8833159. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548. 
  • Elliott KJ, Ellis SB, Berckhan KJ, et al. (1997). "Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits.". J. Mol. Neurosci. 7 (3): 217–28. PMID 8906617. 
  • Groot Kormelink PJ, Luyten WH (1997). "Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32.". FEBS Lett. 400 (3): 309–14. PMID 9009220. 
  • Hirose S, Iwata H, Akiyoshi H, et al. (1999). "A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.". Neurology 53 (8): 1749–53. PMID 10563623. 
  • Samochocki M, Zerlin M, Jostock R, et al. (2001). "Galantamine is an allosterically potentiating ligand of the human alpha4/beta2 nAChR.". Acta Neurol. Scand., Suppl. 176: 68–73. PMID 11261808. 
  • Jeanclos EM, Lin L, Treuil MW, et al. (2001). "The chaperone protein 14-3-3eta interacts with the nicotinic acetylcholine receptor alpha 4 subunit. Evidence for a dynamic role in subunit stabilization.". J. Biol. Chem. 276 (30): 28281–90. doi:10.1074/jbc.M011549200. PMID 11352901. 
  • Engidawork E, Gulesserian T, Balic N, et al. (2002). "Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease.". J. Neural Transm. Suppl. (61): 211–22. PMID 11771745. 
  • Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20.". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052. 
  • Bertrand D, Picard F, Le Hellard S, et al. (2002). "How mutations in the nAChRs can cause ADNFLE epilepsy.". Epilepsia 43 Suppl 5: 112–22. PMID 12121305. 
  • Heeschen C, Weis M, Aicher A, et al. (2002). "A novel angiogenic pathway mediated by non-neuronal nicotinic acetylcholine receptors.". J. Clin. Invest. 110 (4): 527–36. PMID 12189247. 

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