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Gene Review

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

Homo sapiens

Synonyms: EIG10, EJM7, GABA(A) receptor subunit delta, GEFSP5, Gamma-aminobutyric acid receptor subunit delta
 
 
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Disease relevance of GABRD

  • GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies [1].
  • We have found a GABRD Glu177Ala variant which is heterozygously associated with generalized epilepsy with febrile seizures plus [1].
  • PURPOSE OF REVIEW: Only two functionally validated susceptibility genes, CACNA1H and GABRD, have so far been identified in the common epilepsies using a candidate gene approach [2].
 

High impact information on GABRD

  • 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 [3].
  • Here, we report that genetic variation within the GABRD gene, which encodes the GABAA receptor delta subunit, affects GABA current amplitude consistent with a model of polygenic susceptibility to epilepsy in humans [1].
  • The GABRD gene maps immediately proximal to the PRKCZ gene that is located between marker D1S243 and cosmid D1Z2--a region thought to be critical for cognition and speech development [4].
  • Fine physical mapping of the GABRD gene within this genomic interval was performed by screening bacterial artificial chromosome contigs spanning the critical region of the 1p36 deletion syndrome [4].
  • The GABRD gene is expressed most abundantly in brain and has three alternative exons (1A-C) with alternative start codons at the 5'-end [4].
 

Biological context of GABRD

 

Associations of GABRD with chemical compounds

References

  1. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Dibbens, L.M., Feng, H.J., Richards, M.C., Harkin, L.A., Hodgson, B.L., Scott, D., Jenkins, M., Petrou, S., Sutherland, G.R., Scheffer, I.E., Berkovic, S.F., Macdonald, R.L., Mulley, J.C. Hum. Mol. Genet. (2004) [Pubmed]
  2. Genetic dissection of the common epilepsies. Tan, N.C., Mulley, J.C., Scheffer, I.E. Curr. Opin. Neurol. (2006) [Pubmed]
  3. 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]
  4. The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression. Windpassinger, C., Kroisel, P.M., Wagner, K., Petek, E. Gene (2002) [Pubmed]
  5. Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping. Emberger, W., Windpassinger, C., Petek, E., Kroisel, P.M., Wagner, K. Cytogenet. Cell Genet. (2000) [Pubmed]
 
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