Alternative titles; symbols
HGNC Approved Gene Symbol: GABRE
Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:151,953,124-151,974,676 (from NCBI)
Gamma-aminobutyric acid (GABA) receptors are a family of proteins involved in the GABAergic neurotransmission of the mammalian central nervous system. GABRE 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).
Davies et al. (1997) described a member of a new class of human GABA-A receptor subunit, the epsilon subunit. The subunit was detected in the brain and can assemble with alpha and beta subunits.
Wilke et al. (1997) also identified a cDNA sequence of a gene coding for a 506-amino acid protein, representing a member of a putative new class (epsilon) of the GABA-A receptor. The gene, symbolized GABRE, encodes a polypeptide almost identical to the one reported by Davies et al. (1997). GABRE was transcribed in several different tissues, with the highest levels being detected in adult heart and placenta. Wilke et al. (1997) observed alternative splicing of GABRE transcripts isolated from different tissues at multiple positions of the gene, yielding an unusually complex variety of cDNA variants. The structure of the 5-prime region of most cDNAs is compatible with expression of GABRE in adult brain only, whereas in other tissues, most transcripts code for truncated protein sequences.
Sinkkonen et al. (2000) obtained cDNAs encoding rat Gabre and Gabrq (300349), which are highly divergent from their human homologs. They noted that rat Gabre and Gabrq have expression patterns distinct from those reported in primates.
Wilke et al. (1997) determined that the GABRE gene extends over 14 kb and is clustered together with the alpha-3 (305660) and the putative beta-4 GABA-A receptor subunit genes in an interval of approximately 0.8 Mb in band Xq28. It is located in the candidate regions of 2 different neurologic diseases, early-onset parkinsonism, or Waisman syndrome (311510), and MRX3 (309541), a form of X-linked mental retardation.
Davies, P. A., Hanna, M. C., Hales, T. G., Kirkness, E. F. Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. Nature 385: 820-823, 1997. [PubMed: 9039914] [Full Text: https://doi.org/10.1038/385820a0]
Sinkkonen, S. T., Hanna, M. C., Kirkness, E. F., Korpi, E. R. GABA-A receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus. J. Neurosci. 20: 3588-3595, 2000. [PubMed: 10804200] [Full Text: https://doi.org/10.1523/JNEUROSCI.20-10-03588.2000]
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]
Wilke, K., Gaul, R., Klauck, S. M., Poustka, A. A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABA(A) neurotransmitter receptor. Genomics 45: 1-10, 1997. [PubMed: 9339354] [Full Text: https://doi.org/10.1006/geno.1997.4885]