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Gene Review

GABRG1  -  gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: GABA(A) receptor subunit gamma-1, Gamma-aminobutyric acid receptor subunit gamma-1
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High impact information on GABRG1

  • Using panels of chromosome-specific natural deletion hybrids, we have further localized the gamma 1 gene (GABRG1) to 4p14-q21.1 and the gamma 2 gene (GABRG2) to 5q31.1-q33 [1].
  • The proximal breakpoint (4p12) maps to a region containing a cluster of gamma-aminobutyric acid A (GABA(A)) receptor genes, and directly interrupts the GABRG1 gene, the distal-most gene of the cluster [2].
  • We also identified an insertion/deletion polymorphism for a approximately 2 kb LINE1 (L1) element that occurs within intron 7 of GABRG1 [2].
  • DISCUSSION: Despite this, the identification of an inversion breakpoint disrupting GABRG1 provides solid support for the genetic involvement of the short arm of chromosome 4 in the genetic aetiology of autism, and for the hypothesis of disrupted GABA neurotransmission in autism [2].


  1. Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome. Wilcox, A.S., Warrington, J.A., Gardiner, K., Berger, R., Whiting, P., Altherr, M.R., Wasmuth, J.J., Patterson, D., Sikela, J.M. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  2. An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster. Vincent, J.B., Horike, S.I., Choufani, S., Paterson, A.D., Roberts, W., Szatmari, P., Weksberg, R., Fernandez, B., Scherer, S.W. J. Med. Genet. (2006) [Pubmed]
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