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Gene Review

GABRA6  -  gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: GABA(A) receptor subunit alpha-6, Gamma-aminobutyric acid receptor subunit alpha-6
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Disease relevance of GABRA6

  • Allelic variants in the GABA(A)alpha6 receptor subunit gene (GABRA6) is associated with abdominal obesity and cortisol secretion [1].
  • CONCLUSION: These findings suggest a role of the 1519T>C polymorphism in GABRA6 in the predisposition to hypercortisolism and perhaps abdominal obesity [1].

Psychiatry related information on GABRA6


High impact information on GABRA6


Biological context of GABRA6

  • 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 [8].
  • We report here a microsatellite polymorphism within the human alpha 6-subunit gene (GABRA6) [8].
  • A gene cluster consisting of the four gamma-aminobutyric acidA (GABAA) receptor subunit genes GABRA1, GABRA6, GABRAB2, and GABRG2 was assigned to a yeast artificial chromosome (YAC) contig of 5q33 [9].
  • Similarly, the Pro385Ser variant of GABRA6, the polymorphic gene for GABA(A) receptor alpha6 subunit, has been associated with alcohol- and depression-related traits; and rat pups maintained a more immature GABAR phenotype after brief separation distress [2].
  • An interaction between DRD2 and GABRA6 genotypes on father rejection (P = 0.010) and parents rejection (P = 0.030) was also observed [2].

Associations of GABRA6 with chemical compounds


Other interactions of GABRA6

  • These studies demonstrated that nuclear factor I (NFI) proteins are required for both transgenic GABRA6 promoter activity as well as endogenous expression of this gene in cerebellar granule neurons [6].

Analytical, diagnostic and therapeutic context of GABRA6

  • The subjects were genotyped by using PCR amplification of the 3' non-coding region of the GABRA6 gene followed by digestion with the restriction enzyme AlwNI [1].


  1. Allelic variants in the GABA(A)alpha6 receptor subunit gene (GABRA6) is associated with abdominal obesity and cortisol secretion. Rosmond, R., Bouchard, C., Björntorp, P. Int. J. Obes. Relat. Metab. Disord. (2002) [Pubmed]
  2. Negative perceived paternal parenting is associated with dopamine D2 receptor exon 8 and GABA(A) alpha 6 receptor variants: an explorative study. Lucht, M., Barnow, S., Schroeder, W., Grabe, H.J., Finckh, U., John, U., Freyberger, H.J., Herrmann, F.H. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2006) [Pubmed]
  3. GABRA6 gene polymorphism and an attenuated stress response. Uhart, M., McCaul, M.E., Oswald, L.M., Choi, L., Wand, G.S. Mol. Psychiatry (2004) [Pubmed]
  4. Evidence of association between gamma-aminobutyric acid type A receptor genes located on 5q34 and female patients with mood disorders. Yamada, K., Watanabe, A., Iwayama-Shigeno, Y., Yoshikawa, T. Neurosci. Lett. (2003) [Pubmed]
  5. Haplotype-based localization of an alcohol dependence gene to the 5q34 {gamma}-aminobutyric acid type A gene cluster. Radel, M., Vallejo, R.L., Iwata, N., Aragon, R., Long, J.C., Virkkunen, M., Goldman, D. Arch. Gen. Psychiatry (2005) [Pubmed]
  6. A role for nuclear factor I in the intrinsic control of cerebellar granule neuron gene expression. Wang, W., Stock, R.E., Gronostajski, R.M., Wong, Y.W., Schachner, M., Kilpatrick, D.L. J. Biol. Chem. (2004) [Pubmed]
  7. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Petryshen, T.L., Middleton, F.A., Tahl, A.R., Rockwell, G.N., Purcell, S., Aldinger, K.A., Kirby, A., Morley, C.P., McGann, L., Gentile, K.L., Waggoner, S.G., Medeiros, H.M., Carvalho, C., Macedo, A., Albus, M., Maier, W., Trixler, M., Eichhammer, P., Schwab, S.G., Wildenauer, D.B., Azevedo, M.H., Pato, M.T., Pato, C.N., Daly, M.J., Sklar, P. Mol. Psychiatry (2005) [Pubmed]
  8. 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. Hicks, A.A., Bailey, M.E., Riley, B.P., Kamphuis, W., Siciliano, M.J., Johnson, K.J., Darlison, M.G. Genomics (1994) [Pubmed]
  9. Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33. Kostrzewa, M., Köhler, A., Eppelt, K., Hellam, L., Fairweather, N.D., Levy, E.R., Monaco, A.P., Müller, U. Eur. J. Hum. Genet. (1996) [Pubmed]
  10. Canavan disease: a monogenic trait with complex genomic interaction. Surendran, S., Michals-Matalon, K., Quast, M.J., Tyring, S.K., Wei, J., Ezell, E.L., Matalon, R. Mol. Genet. Metab. (2003) [Pubmed]
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