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| Gamma-aminobutyric acid (GABA) A receptor, alpha 6 | ||||||||||||||
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| Identifiers | ||||||||||||||
| Symbols | GABRA6; MGC116903; MGC116904 | |||||||||||||
| External IDs | OMIM: 137143 MGI: 95618 HomoloGene: 20220 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| More reference expression data | ||||||||||||||
| Orthologs | ||||||||||||||
| Species | Human | Mouse | ||||||||||||
| Entrez | 2559 | 14399 | ||||||||||||
| Ensembl | ENSG00000145863 | ENSMUSG00000020428 | ||||||||||||
| UniProt | Q16445 | O54736 | ||||||||||||
| RefSeq | NM_000811 (mRNA) | NM_008068 (mRNA) | ||||||||||||
| NP_000802 (protein) | NP_032094 (protein) | |||||||||||||
| Location | Chr 5: 161.05 - 161.06 Mb |
Chr 11: 42.15 - 42.16 Mb |
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| 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
- ^ 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:. PMID 8020978.
- ^ 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.
- ^ 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:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. PMID 17295876.
External links
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