GABRA4
{{Short description|Protein-coding gene in the species Homo sapiens}}
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Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.{{cite journal |vauthors=McLean PJ, Farb DH, Russek SJ | title = 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 | journal = Genomics | volume = 26 | issue = 3 | pages = 580–586 |date=Aug 1995 | pmid = 7607683 | doi =10.1016/0888-7543(95)80178-O | doi-access = free }}{{cite web | title = Entrez Gene: GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2557}}
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.{{cite web | title = Entrez Gene: GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2557}}
A research study compared wild-type to knockout GABRA4 gene in mice. It was determined that the elimination of the GABRA4 gene displayed characteristics that are associated with autism spectrum disorder (ASD). These include increased spatial cognition and decreased social engagement, unlike the wild-type mice. A hippocampal transcriptome analysis was profiled on knockout mice, showing the increased activity of N-methyl-D-aspartate receptors. This plays a role in consciousness and learning resulting in those characteristics.{{Cite journal |title=Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy {{!}} Molecular Autism |url=https://rdcu.be/cNryI |access-date=2022-05-12 |journal=Molecular Autism |date=December 2020 |volume=11 |issue=1 |page=13 |doi=10.1186/s13229-020-0318-9 |doi-access=free |language=en |last1=Fan |first1=Cuixia |last2=Gao |first2=Yue |last3=Liang |first3=Guanmei |last4=Huang |first4=Lang |last5=Wang |first5=Jing |last6=Yang |first6=Xiaoxue |last7=Shi |first7=Yiwu |last8=Dräger |first8=Ursula C. |last9=Zhong |first9=Mei |last10=Gao |first10=Tian-Ming |last11=Yang |first11=Xinping |pmid=32033586 |pmc=7007694 }}
See also
References
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Further reading
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- {{cite journal |vauthors=Tögel M, Mossier B, Fuchs K, Sieghart W |title=gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties. |journal=J. Biol. Chem. |volume=269 |issue= 17 |pages= 12993–12998 |year= 1994 |doi=10.1016/S0021-9258(18)99974-6 |pmid= 8175718 |doi-access=free }}
- {{cite journal |vauthors=Yang W, Drewe JA, Lan NC |title=Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site. |journal=Eur. J. Pharmacol. |volume=291 |issue= 3 |pages= 319–325 |year= 1996 |pmid= 8719416 |doi= 10.1016/0922-4106(95)90072-1}}
- {{cite journal |vauthors=Kumar R, Lumsden A, Ciclitira PJ |title=Human genome search in celiac disease using gliadin cDNA as probe. |journal=J. Mol. Biol. |volume=300 |issue= 5 |pages= 1155–1167 |year= 2000 |pmid= 10903861 |doi= 10.1006/jmbi.2000.3927 |display-authors=etal}}
- {{cite journal |vauthors=Kumar S, Sieghart W, Morrow AL |title=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=J. Neurochem. |volume=82 |issue= 1 |pages= 110–117 |year= 2002 |pmid= 12091471 |doi=10.1046/j.1471-4159.2002.00943.x |s2cid=82745932 }}
- {{cite journal |vauthors=Mu W, Cheng Q, Yang J, Burt DR |title=Alternative splicing of the GABA(A) receptor alpha 4 subunit creates a severely truncated mRNA. |journal=Brain Res. Bull. |volume=58 |issue= 5 |pages= 447–454 |year= 2002 |pmid= 12242096 |doi=10.1016/S0361-9230(02)00816-X |s2cid=140209801 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal|doi-access=free |bibcode=2002PNAS...9916899M }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Ma DQ, Whitehead PL, Menold MM |title=Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. |journal=Am. J. Hum. Genet. |volume=77 |issue= 3 |pages= 377–388 |year= 2006 |pmid= 16080114 |doi= 10.1086/433195 | pmc=1226204 |display-authors=etal}}
- {{cite journal |vauthors=Collins AL, Ma D, Whitehead PL |title=Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. |journal=Neurogenetics |volume=7 |issue= 3 |pages= 167–174 |year= 2007 |pmid= 16770606 |doi= 10.1007/s10048-006-0045-1 | pmc=1513515 |display-authors=etal}}
- {{cite journal |vauthors=Lagrange AH, Botzolakis EJ, Macdonald RL |title=Enhanced macroscopic desensitization shapes the response of alpha4 subtype-containing GABAA receptors to synaptic and extrasynaptic GABA. |journal=J. Physiol. |volume=578 |issue= Pt 3 |pages= 655–676 |year= 2007 |pmid= 17124266 |doi= 10.1113/jphysiol.2006.122135 | pmc=2151343 }}
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External links
- {{MeshName|GABRA4+protein,+human}}
{{NLM content}}
{{Ligand-gated ion channels}}
{{GABAergics}}
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