GABRE
Gamma-aminobutyric acid (GABA) A receptor, epsilon | |||||||||||
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Symbols | GABRE ; | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 68425 | ||||||||||
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Species | Human | Mouse | |||||||||
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RefSeq (protein) | n/a | n/a | |||||||||
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Gamma-aminobutyric acid (GABA) A receptor, epsilon, also known as GABRE, is a human gene.[1]
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 comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants encoding different isoforms have been identified.[1]
See also
References
Further reading
- Jones BL, Henderson LP (2007). "Trafficking and potential assembly patterns of epsilon-containing GABAA receptors". J. Neurochem. 103 (3): 1258–71. doi:10.1111/j.1471-4159.2007.04833.x. PMID 17714454.
- Rosen A, Bali M, Horenstein J, Akabas MH (2007). "Channel opening by anesthetics and GABA induces similar changes in the GABAA receptor M2 segment". Biophys. J. 92 (9): 3130–9. doi:10.1529/biophysj.106.094490. PMID 17293408.
- Wilkins ME, Hosie AM, Smart TG (2005). "Proton modulation of recombinant GABA(A) receptors: influence of GABA concentration and the beta subunit TM2-TM3 domain". J. Physiol. (Lond.). 567 (Pt 2): 365–77. doi:10.1113/jphysiol.2005.088823. PMID 15946973.
- 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. PMID 15755675.
- 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. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- 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. PMID 12367593.
- 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. PMID 10804200.
- Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome". Gene. 227 (2): 213–22. PMID 10023064.
- 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. PMID 9339354.
- 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. PMID 9185540.
- Garret M, Bascles L, Boue-Grabot E; et al. (1997). "An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system". J. Neurochem. 68 (4): 1382–9. PMID 9084408.
- Davies PA, Hanna MC, Hales TG, Kirkness EF (1997). "Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit". Nature. 385 (6619): 820–3. doi:10.1038/385820a0. PMID 9039914.
External links
- GABRE+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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