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Gamma-aminobutyric acid (GABA) A receptor, alpha 6
Identifiers
Symbols GABRA6; MGC116903; MGC116904
External IDs OMIM137143 MGI95618 HomoloGene20220 GeneCards: GABRA6 Gene
RNA expression pattern
PBB GE GABRA6 207182 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2559 14399
Ensembl ENSG00000145863 ENSMUSG00000020428
UniProt Q16445 O54736
RefSeq (mRNA) NM_000811 NM_008068
RefSeq (protein) NP_000802 NP_032094
Location (UCSC) Chr 5:
161.05 - 161.06 Mb
Chr 11:
42.15 - 42.16 Mb
PubMed search [1] [2]

Gamma-aminobutyric acid receptor subunit alpha-6 is a protein that in humans is encoded by the GABRA6 gene.[1][2]

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified.[2]

One study has found a genetic variant in the gene to be associated with the personality trait neuroticism.[3]

Contents

See also

References

  1. ^ Hicks AA, Bailey ME, Riley BP, Kamphuis W, Siciliano MJ, Johnson KJ, Darlison MG (Aug 1994). "Further evidence for clustering of human GABAA receptor subunit genes: localization of the alpha 6-subunit gene (GABRA6) to distal chromosome 5q by linkage analysis". Genomics 20 (2): 285-8. doi:10.1006/geno.1994.1167. PMID 8020978.  
  2. ^ a b "Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2559.  
  3. ^ Srijan Sen, Sandra Villafuerte, Randolph Nesse, Scott F. Stoltenberg, Jeffrey Hopcian, Lillian Gleiberman, Alan Weder & Margit Burmeister (February 2004). "Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism". Biological Psychiatry 55 (3): 244–249. doi:10.1016/j.biopsych.2003.08.006. PMID 14744464.  

Further reading

  • Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties.". J. Biol. Chem. 269 (17): 12993–8. PMID 8175718.  
  • Hadingham KL, Garrett EM, Wafford KA, et al. (1996). "Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors.". Mol. Pharmacol. 49 (2): 253–9. PMID 8632757.  
  • Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome.". Gene 227 (2): 213–22. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.  
  • Sen S, Villafuerte S, Nesse R, et al. (2004). "Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism.". Biol. Psychiatry 55 (3): 244–9. doi:10.1016/j.biopsych.2003.08.006. PMID 14744464.  
  • Peran M, Hooper H, Rayner SL, et al. (2004). "GABAA receptor alpha1 and alpha6 subunits mediate cell surface anchoring in cultured cells.". Neurosci. Lett. 364 (2): 67–70. doi:10.1016/j.neulet.2004.03.081. PMID 15196679.  
  • Uhart M, McCaul ME, Oswald LM, et al. (2005). "GABRA6 gene polymorphism and an attenuated stress response.". Mol. Psychiatry 9 (11): 998–1006. doi:10.1038/sj.mp.4001535. PMID 15197399.  
  • Wang W, Stock RE, Gronostajski RM, et al. (2005). "A role for nuclear factor I in the intrinsic control of cerebellar granule neuron gene expression.". J. Biol. Chem. 279 (51): 53491–7. doi:10.1074/jbc.M410370200. PMID 15466411.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.  
  • Lucht M, Barnow S, Schroeder W, et al. (2006). "Negative perceived paternal parenting is associated with dopamine D2 receptor exon 8 and GABA(A) alpha 6 receptor variants: an explorative study.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 141 (2): 167–72. doi:10.1002/ajmg.b.30255. PMID 16402352.  
  • Park CS, Park SY, Lee CS, et al. (2007). "Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.". J. Korean Med. Sci. 21 (3): 533–8. doi:10.3346/jkms.2006.21.3.533. PMID 16778401.  
  • Kobayashi Y, Akiyoshi J, Kanehisa M, et al. (2007). "Lack of polymorphism in genes encoding mGluR 7, mGluR 8, GABA(A) receptor alfa-6 subunit and nociceptin/orphanin FQ receptor and panic disorder.". Psychiatr. Genet. 17 (1): 9. doi:10.1097/YPG.0b013e32801118bc. PMID 17167337.  
  • Lee YC, Wang HP, Chiu HM, et al. (2007). "GABRA6 genetic polymorphism is associated with the risk of functional heartburn in Chinese.". J. Gastroenterol. Hepatol. 22 (2): 227–33. doi:10.1111/j.1440-1746.2006.04441.x. PMID 17295876.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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