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GABRA4 - Wikipedia

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

GABRA4 Identifiers Aliases GABRA4, gamma-aminobutyric acid type A receptor alpha4 subunit, gamma-aminobutyric acid type A receptor subunit alpha4 External IDs OMIM: 137141; MGI: 95616; HomoloGene: 631; GeneCards: GABRA4; OMA:GABRA4 - orthologs Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p12 Start 46,918,900 bp[1] End 46,993,581 bp[1] Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 C3.1-C3.2 Start 71,569,749 bp[2] End 71,658,308 bp[2] RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Top expressed in More reference expression data BioGPS More reference expression data Gene ontology Molecular function Cellular component Biological process Sources:Amigo / QuickGO Orthologs Species Human Mouse Entrez

2557

14397

Ensembl

ENSG00000109158

ENSMUSG00000029211

UniProt

P48169

Q9D6F4

RefSeq (mRNA)

NM_000809
NM_001204266
NM_001204267

NM_010251

RefSeq (protein)

NP_000800
NP_001191195
NP_001191196

NP_034381
NP_001345970
NP_001345972
NP_001345973
NP_001345974

NP_001345975
NP_001345976
NP_001345977
NP_001345979

Location (UCSC) Chr 4: 46.92 – 46.99 Mb Chr 5: 71.57 – 71.66 Mb PubMed search [3] [4] Wikidata View/Edit Human View/Edit Mouse

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]

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.[7]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000109158Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029211Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ McLean PJ, Farb DH, Russek SJ (Aug 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.
  6. ^ a b "Entrez Gene: GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4".
  7. ^ Fan C, Gao Y, Liang G, Huang L, Wang J, Yang X, Shi Y, Dräger UC, Zhong M, Gao TM, Yang X (December 2020). "Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy | Molecular Autism". Molecular Autism. 11 (1): 13. doi:10.1186/s13229-020-0318-9. PMC 7007694. PMID 32033586. Retrieved 2022-05-12.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

GABA receptor modulators Ionotropic GABAATooltip γ-Aminobutyric acid A receptor GABAATooltip γ-Aminobutyric acid A-rho receptor Metabotropic GABABTooltip γ-Aminobutyric acid B receptor
See also
Receptor/signaling modulators
GABAA receptor positive modulators
GABA metabolism/transport modulators

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