GABRA4
Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.[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]
Research
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]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000109158 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029211 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ McLean PJ, Farb DH, Russek SJ (April 1995). "Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster". Genomics. 26 (3): 580–586. doi:10.1016/0888-7543(95)80178-O. PMID 7607683.
- ^ a b "Entrez Gene: GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4".
- ^ Fan C, Gao Y, Liang G, Huang L, Wang J, Yang X, et al. (February 2020). "Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy". Molecular Autism. 11 (1) 13. doi:10.1186/s13229-020-0318-9. PMC 7007694. PMID 32033586.
Further reading
- Tögel M, Mossier B, Fuchs K, Sieghart W (April 1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties". The Journal of Biological Chemistry. 269 (17): 12993–12998. doi:10.1016/S0021-9258(18)99974-6. PMID 8175718.
- Yang W, Drewe JA, Lan NC (November 1995). "Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site". European Journal of Pharmacology. 291 (3): 319–325. doi:10.1016/0922-4106(95)90072-1. PMID 8719416.
- 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. PMID 10903861.
- 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. PMID 12091471. S2CID 82745932.
- 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. PMID 12242096. S2CID 140209801.
- Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, et al. (September 2005). "Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism". American Journal of Human Genetics. 77 (3): 377–388. doi:10.1086/433195. PMC 1226204. PMID 16080114.
- Collins AL, Ma D, Whitehead PL, Martin ER, Wright HH, Abramson RK, et al. (July 2006). "Investigation of autism and GABA receptor subunit genes in multiple ethnic groups". Neurogenetics. 7 (3): 167–174. doi:10.1007/s10048-006-0045-1. PMC 1513515. PMID 16770606.
- Lagrange AH, Botzolakis EJ, Macdonald RL (February 2007). "Enhanced macroscopic desensitization shapes the response of alpha4 subtype-containing GABAA receptors to synaptic and extrasynaptic GABA". The Journal of Physiology. 578 (Pt 3): 655–676. doi:10.1113/jphysiol.2006.122135. PMC 2151343. PMID 17124266.
External links
- GABRA4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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