Gamma-aminobutyric acid receptor subunit epsilon is a protein that in humans is encoded by the GABREgene.[1][2][3]
The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants encoding different isoforms have been identified.[3]
↑Davies PA, Hanna MC, Hales TG, Kirkness EF (Mar 1997). "Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit". Nature. 385 (6619): 820–3. doi:10.1038/385820a0. PMID9039914.
↑Garret M, Bascles L, Boue-Grabot E, Sartor P, Charron G, Bloch B, Margolskee RF (Apr 1997). "An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system". J Neurochem. 68 (4): 1382–9. doi:10.1046/j.1471-4159.1997.68041382.x. PMID9084408.
Porter BE, Zhang G, Celix J, et al. (2005). "Heterogeneous GABAA receptor subunit expression in pediatric epilepsy patients". Neurobiol. Dis. 18 (3): 484–91. doi:10.1016/j.nbd.2004.12.010. PMID15755675.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Davies PA, McCartney MR, Wang W, et al. (2002). "Alternative transcripts of the GABA(A) receptor epsilon subunit in human and rat". Neuropharmacology. 43 (4): 467–75. doi:10.1016/S0028-3908(02)00153-3. PMID12367593.
Sinkkonen ST, Hanna MC, Kirkness EF, Korpi ER (2000). "GABA(A) receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus". J. Neurosci. 20 (10): 3588–95. PMID10804200.
Wilke K, Gaul R, Klauck SM, Poustka A (1997). "A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor". Genomics. 45 (1): 1–10. doi:10.1006/geno.1997.4885. PMID9339354.
Whiting PJ, McAllister G, Vassilatis D, et al. (1997). "Neuronally restricted RNA splicing regulates the expression of a novel GABAA receptor subunit conferring atypical functional properties [corrected; erratum to be published]". J. Neurosci. 17 (13): 5027–37. PMID9185540.