GABRB1

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Gamma-aminobutyric acid (GABA) A receptor, beta 1
Identifiers
Symbol GABRB1
External IDs OMIM137190 MGI95619 HomoloGene20221 IUPHAR: β1 ChEMBL: 4558 GeneCards: GABRB1 Gene
Orthologs
Species Human Mouse
Entrez 2560 14400
Ensembl ENSG00000163288 ENSMUSG00000029212
UniProt P18505 P50571
RefSeq (mRNA) NM_000812 NM_008069
RefSeq (protein) NP_000803 NP_032095
Location (UCSC) Chr 4:
47 – 47.43 Mb
Chr 5:
71.7 – 72.14 Mb
PubMed search [1] [2]

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

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.[1]

Clinical significance[edit]

Mice bearing mutant copies of this gene have been shown to be vulnerable to binge drinking of alcohol.[2]

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1". 
  2. ^ 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. 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.