Biology:GABRA4

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.[1][2]

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.[2]

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.[3]

See also

References

  1. "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. Aug 1995. doi:10.1016/0888-7543(95)80178-O. PMID 7607683. 
  2. 2.0 2.1 "Entrez Gene: GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2557. 
  3. Fan, Cuixia; Gao, Yue; Liang, Guanmei; Huang, Lang; Wang, Jing; Yang, Xiaoxue; Shi, Yiwu; Dräger, Ursula C. et al. (December 2020). "Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy | Molecular Autism" (in en). Molecular Autism 11 (1): 13. doi:10.1186/s13229-020-0318-9. PMID 32033586. PMC 7007694. https://rdcu.be/cNryI. Retrieved 2022-05-12. 

Further reading

External links

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

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See also
Receptor/signaling modulators
GABAA receptor positive modulators
GABA metabolism/transport modulators

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