GABRA4

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.[5][6]

AliasesGABRA4, gamma-aminobutyric acid type A receptor alpha4 subunit, gamma-aminobutyric acid type A receptor subunit alpha4
End46,993,581 bp[1]
Quick facts Identifiers, Aliases ...
GABRA4
Identifiers
AliasesGABRA4, gamma-aminobutyric acid type A receptor alpha4 subunit, gamma-aminobutyric acid type A receptor subunit alpha4
External IDsOMIM: 137141; MGI: 95616; HomoloGene: 631; GeneCards: GABRA4; OMA:GABRA4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000809
NM_001204266
NM_001204267

NM_010251

RefSeq (protein)

NP_000800
NP_001191195
NP_001191196

Location (UCSC)Chr 4: 46.92 – 46.99 MbChr 5: 71.57 – 71.66 Mb
PubMed search[3][4]
Wikidata
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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

Further reading

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