GABRA5
Gamma-aminobutyric acid (GABA) A receptor, alpha 5 | |||||||||||
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Identifiers | |||||||||||
Symbols | GABRA5 ; MGC138184 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 20219 | ||||||||||
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Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
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RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Gamma-aminobutyric acid (GABA) A receptor, alpha 5, also known as GABRA5, is a human gene.[1]
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described.[1]
See also
References
Further reading
- Delong R (2007). "GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism". Autism : the international journal of research and practice. 11 (2): 135–47. doi:10.1177/1362361307075705. PMID 17353214.
- Otani K, Ujike H, Tanaka Y; et al. (2005). "The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder". Neurosci. Lett. 381 (1–2): 108–13. doi:10.1016/j.neulet.2005.02.010. PMID 15882799.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Chou KC (2004). "Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5". Biochem. Biophys. Res. Commun. 316 (3): 636–42. doi:10.1016/j.bbrc.2004.02.098. PMID 15033447.
- 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.
- Ritchie RJ, Mattei MG, Lalande M (1998). "A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications". Hum. Mol. Genet. 7 (8): 1253–60. PMID 9668167.
- Kim Y, Glatt H, Xie W; et al. (1997). "Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region". Genomics. 42 (3): 378–87. doi:10.1006/geno.1997.4770. PMID 9205108.
- Glatt K, Glatt H, Lalande M (1997). "Structure and organization of GABRB3 and GABRA5". Genomics. 41 (1): 63–9. doi:10.1006/geno.1997.4639. PMID 9126483.
- Knoll JH, Sinnett D, Wagstaff J; et al. (1993). "FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions". Hum. Mol. Genet. 2 (2): 183–9. PMID 8388764.
- Russek SJ, Farb DH (1995). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform". Genomics. 23 (3): 528–33. doi:10.1006/geno.1994.1539. PMID 7851879.
- Glatt KA, Sinnett D, Lalande M (1993). "Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13". Hum. Mol. Genet. 1 (5): 348. PMID 1338907.
- Wingrove P, Hadingham K, Wafford K; et al. (1992). "Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit". Biochem. Soc. Trans. 20 (1): 18S. PMID 1321750.
External links
- GABRA5+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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