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Gene Review

GABRA4  -  gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: GABA(A) receptor subunit alpha-4, Gamma-aminobutyric acid receptor subunit alpha-4
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Disease relevance of GABRA4

  • Results of our previous work suggests that signaling via protein kinase C (PKC) and early growth response factor 3 (Egr3) is the plasticity trigger for aberrant alpha4 subunit gene (GABRA4) expression after status epilepticus [1].

High impact information on GABRA4

  • We also ruled out any compensatory upregulation of alpha6 subunits that might have accounted for the ethanol effect in Gabra4(-/-) mice [2].
  • Ethanol potentiates the tonic inhibition mediated by such native alpha1/delta GABA(A)Rs in wild-type and in alpha4 subunit-deficient (Gabra4(-/-)) mice, but not in delta subunit-deficient (Gabrd(-/-)) mice [2].
  • EMDR also identified a significant two-locus gene-gene effect model involving RS1912960 in GABRA4 and RS2351299 in GABRB1 [3].
  • The geno-PDT found significant genotypic association for HCV8262334 (in GABRA2), RS1912960 and RS2280073 (in GABRA4), and RS2617503 and RS12187676 (in GABRB2) [3].
  • Significant allelic association was found for markers RS1912960 (in GABRA4; P = .01) and HCV9866022 (in GABRR2; P = .04) [3].

Biological context of GABRA4


  1. Brain-derived Neurotrophic Factor (BDNF)-induced Synthesis of Early Growth Response Factor 3 (Egr3) Controls the Levels of Type A GABA Receptor{alpha}4 Subunits in Hippocampal Neurons. Roberts, D.S., Hu, Y., Lund, I.V., Brooks-Kayal, A.R., Russek, S.J. J. Biol. Chem. (2006) [Pubmed]
  2. A new naturally occurring GABA(A) receptor subunit partnership with high sensitivity to ethanol. Glykys, J., Peng, Z., Chandra, D., Homanics, G.E., Houser, C.R., Mody, I. Nat. Neurosci. (2007) [Pubmed]
  3. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Ma, D.Q., Whitehead, P.L., Menold, M.M., Martin, E.R., Ashley-Koch, A.E., Mei, H., Ritchie, M.D., Delong, G.R., Abramson, R.K., Wright, H.H., Cuccaro, M.L., Hussman, J.P., Gilbert, J.R., Pericak-Vance, M.A. Am. J. Hum. Genet. (2005) [Pubmed]
  4. Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster. McLean, P.J., Farb, D.H., Russek, S.J. Genomics (1995) [Pubmed]
  5. Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. Roberts, D.S., Raol, Y.H., Bandyopadhyay, S., Lund, I.V., Budreck, E.C., Passini, M.A., Passini, M.J., Wolfe, J.H., Brooks-Kayal, A.R., Russek, S.J. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  6. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Collins, A.L., Ma, D., Whitehead, P.L., Martin, E.R., Wright, H.H., Abramson, R.K., Hussman, J.P., Haines, J.L., Cuccaro, M.L., Gilbert, J.R., Pericak-Vance, M.A. Neurogenetics (2006) [Pubmed]
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