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Gene Review:

Gabra1 - gamma-aminobutyric acid (GABA) A receptor,...

Mus musculus

Synonyms: GABA(A) receptor subunit alpha-1, GABAA alpha 1, GABAAR alpha1, Gabra-1, Gamma-aminobutyric acid receptor subunit alpha-1

Keir, W.J. et al., Yang, C.Y. et al., Derry, J.M. et al., Deng, H. et al.

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Disease relevance of Gabra1

GABA-A receptor alpha 1 (Gabra)(-/-) mice have been reported to exhibit postural and kinetic, alcohol-responsive, tremor that is characteristic of essential tremor (ET), the most common form of tremor [1].

High impact information on Gabra1

Excluding deletions, the murine GABAA alpha 1 receptor exhibits 96% nucleotide and 100% amino acid sequence homology to the rat alpha 1 receptor cDNA and over 91% nucleotide and 98% amino acid sequence homology to the bovine and human alpha 1 receptor cDNAs in the protein coding region [2].
In addition, we have extended the mapping of the GABAA alpha 3-subunit receptor gene (Gabra3) [3].
Mapping of the glycine receptor alpha 2-subunit gene and the GABAA alpha 3-subunit gene on the mouse X chromosome [3].
Mouse monoclonal antibodies 62-3G1 and BD-17, that recognize the GABAA beta 2, beta 3 polypeptides, and BD-24, that recognizes the GABAA alpha 1 polypeptide, did not label either the OPL or IPL, despite numerous variations in the fixation and immunoprocessing methods [4].

References

Genetic analysis of the GABRA1 gene in patients with essential tremor. Deng, H., Xie, W.J., Le, W.D., Huang, M.S., Jankovic, J. Neurosci. Lett. (2006) [Pubmed]
The cDNA sequence and chromosomal location of the murine GABAA alpha 1 receptor gene. Keir, W.J., Kozak, C.A., Chakraborti, A., Deitrich, R.A., Sikela, J.M. Genomics (1991) [Pubmed]
Mapping of the glycine receptor alpha 2-subunit gene and the GABAA alpha 3-subunit gene on the mouse X chromosome. Derry, J.M., Barnard, P.J. Genomics (1991) [Pubmed]
Localization of GABAA receptor subtypes in the tiger salamander retina. Yang, C.Y., Lin, Z.S., Yazulla, S. Vis. Neurosci. (1992) [Pubmed]

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gabra1	Danio rerio
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gabra1	Xenopus (Silurana) tropicalis

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