Gamma-aminobutyric acid receptor subunit alpha-4 is aprotein that in humans is encoded by theGABRA4gene.[5][6]
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.[6]
A study in mice compared wild-type animals with those lacking the Gabra4 gene. Gabra4 knockout mice exhibited behavioral alterations relative to wild-type controls, including enhanced performance in spatial learning tasks and reduced social interaction, features that have been described as relevant to autism spectrum disorder–associated phenotypes in animal models. Transcriptomic analysis of hippocampal tissue from knockout mice identified altered gene expression consistent with increased activity of N-methyl-D-aspartate (NMDA) receptor–related signaling pathways, which are involved in synaptic plasticity, learning, and neuronal excitability.[7]
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Kumar R, Lumsden A, Ciclitira PJ, Ellis HJ, Laurie GW (July 2000). "Human genome search in celiac disease using gliadin cDNA as probe".Journal of Molecular Biology.300 (5):1155–1167.doi:10.1006/jmbi.2000.3927.PMID10903861.
Kumar S, Sieghart W, Morrow AL (July 2002). "Association of protein kinase C with GABA(A) receptors containing alpha1 and alpha4 subunits in the cerebral cortex: selective effects of chronic ethanol consumption".Journal of Neurochemistry.82 (1):110–117.doi:10.1046/j.1471-4159.2002.00943.x.PMID12091471.S2CID82745932.
Mu W, Cheng Q, Yang J, Burt DR (September 2002). "Alternative splicing of the GABA(A) receptor alpha 4 subunit creates a severely truncated mRNA".Brain Research Bulletin.58 (5):447–454.doi:10.1016/S0361-9230(02)00816-X.PMID12242096.S2CID140209801.
