Alternative titles; symbols
HGNC Approved Gene Symbol: GABRG1
Cytogenetic location: 4p12 Genomic coordinates (GRCh38) : 4:46,035,769-46,124,054 (from NCBI)
Gamma-aminobutyric acid (GABA) receptors are a family of proteins involved in the GABAergic neurotransmission of the mammalian central nervous system. GABRG1 is a member of the GABA-A receptor gene family of heteromeric pentameric ligand-gated ion channels through which GABA, the major inhibitory neurotransmitter in the mammalian brain, acts. GABA-A receptors are the site of action of a number of important pharmacologic agents including barbiturates, benzodiazepines, and ethanol (summary by Whiting et al., 1999).
For additional general information about the GABA-A receptor gene family, see GABRA1 (137160).
Wilcox et al. (1992) stated that the GABRG1 and GABRG2 (137164) subunits are important in mediating responses to benzodiazepines.
Wilcox et al. (1992) assigned genes encoding the gamma-1 and gamma-2 subunits of the GABA-A receptor to chromosomes 4 and 5, respectively, by PCR amplification of human-specific products from human-hamster somatic cell hybrid DNAs. Using panels of chromosome-specific natural deletion hybrids, Wilcox et al. (1992) further localized the gamma-1 gene (GABRG1) to 4p14-q21.1 and the gamma-2 gene (GABRG2; 137164) to 5q31.1-q33.2. These data suggested that the GABRG1 gene may be clustered with the previously mapped GABRA2 (137140) and GABRB1 gene (137190) on chromosome 4 and that the GABRG2 gene may be close to the previously localized GABRA1 gene (137160) on chromosome 5. To test this further, the GABRA1 gene was mapped using the chromosome 5 deletion hybrids and shown to be within the same region as the GABRG2 gene, 5q31.1-q33.2. By means of a PCR-based screening strategy, a 450-kb human genomic YAC clone containing both the GABRA1 and the GABRG2 genes was isolated. Pulsed field gel restriction mapping of this YAC indicated that the 2 genes are within 200 kb of each other.
Whiting, P. J., Bonnert, T. P., McKernan, R. M., Farrar, S., le Bourdelles, B., Heavens, R. P., Smith, D. W., Hewson, L., Rigby, M. R., Sirinathsinghji, D. J. S., Thompson, S. A., Wafford, K. A. Molecular and functional diversity of the expanding GABA-A receptor gene family. Ann. N.Y. Acad. Sci. 868: 645-653, 1999. [PubMed: 10414349] [Full Text: https://doi.org/10.1111/j.1749-6632.1999.tb11341.x]
Wilcox, A. S., Warrington, J. A., Gardiner, K., Berger, R., Whiting, P., Altherr, M. R., Wasmuth, J. J., Patterson, D., Sikela, J. M. 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. Proc. Nat. Acad. Sci. 89: 5857-5861, 1992. [PubMed: 1321425] [Full Text: https://doi.org/10.1073/pnas.89.13.5857]