GABRB1

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GABRB1
Identifiers
Aliases GABRB1, gamma-aminobutyric acid type A receptor beta1 subunit, EIEE45
External IDs MGI: 95619 HomoloGene: 20221 GeneCards: GABRB1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000812

NM_008069

RefSeq (protein)

NP_000803

NP_032095.1
NP_032095

Location (UCSC) Chr 4: 46.99 – 47.43 Mb Chr 5: 71.66 – 72.15 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Gamma-aminobutyric acid receptor subunit beta-1 is a protein that in humans is encoded by the GABRB1 gene.[3]

Function[edit]

The gamma-aminobutyric acid A receptor (GABAA receptor) is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABAA receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia.[3]

Clinical significance[edit]

Mice bearing mutant copies of this gene have been shown to be vulnerable to binge drinking of alcohol.[4]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1". 
  4. ^ Anstee QM, Knapp S, Maguire EP, Hosie AM, Thomas P, Mortensen M, Bhome R, Martinez A, Walker SE, Dixon CI, Ruparelia K, Montagnese S, Kuo YT, Herlihy A, Bell JD, Robinson I, Guerrini I, McQuillin A, Fisher EM, Ungless MA, Gurling HM, Morgan MY, Brown SD, Stephens DN, Belelli D, Lambert JJ, Smart TG, Thomas HC (November 2013). "Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition". Nat Commun. 4: 2816. doi:10.1038/ncomms3816. PMC 3843143Freely accessible. PMID 24281383. 

Further reading[edit]

External links[edit]

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