GABRA6

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Gamma-aminobutyric acid (GABA) A receptor, alpha 6
Identifiers
Symbols GABRA6; MGC116903; MGC116904
External IDs OMIM: 137143 MGI: 95618 HomoloGene: 20220
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2559 14399
Ensembl ENSG00000145863 ENSMUSG00000020428
Uniprot Q16445 O54736
Refseq NM_000811 (mRNA)
NP_000802 (protein)		 NM_008068 (mRNA)
NP_032094 (protein)
Location Chr 5: 161.05 - 161.06 Mb Chr 11: 42.15 - 42.16 Mb
Pubmed search [1] [2]

Gamma-aminobutyric acid (GABA) A receptor, alpha 6, also known as GABRA6, is a human gene.[1]

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.[1]

One study has found a genetic variant in the gene to be associated with the personality trait neuroticism.[2]

Contents

See also

References

  1. ^ a b "Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6".
  2. ^ 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. PMID 14744464. 

Further reading

  • Hicks AA, Bailey ME, Riley BP, et al. (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. 
  • 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. 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. 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. 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

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v • d • e
Ion channel, receptor: ligand-gated ion channels
Cys-loop receptors
5-HT3 (A, B, C, D, E)
GABA A (α1, α2, α3, α4, α5, α6, β1, β2, β3, γ1, γ2, γ3, δ, ε, π, θ) • GABA C (ρ1, ρ2, ρ3)
α1 • α2 • α3 • α4 • β
monomers: α1 • α2 • α3 • α4 • α5 • α6 • α7 • α9 • α10 • β1 • β2 • β3 • β4 • δ • ε
pentamers: (α4)2(β2)3 • (α7)5 • (α1)2(β4)3 - Ganglion type • (α1)2β1δε - Muscle type
Ionotropic glutamates
AMPA (1, 2, 3, 4) • Kainate (1, 2, 3, 4, 5)  • NMDA (1, 2A, 2B, 2C, 2D, 3A, 3B, L1A, L1B)
ATP-gated channels

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