Aliases GABRB2 Human Mouse Ensembl ENSG00000145864 | Species Human Entrez 2561 | |
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External IDs MGI: 95620 HomoloGene: 7327 GeneCards: GABRB2 | ||
Gamma-aminobutyric acid receptor subunit beta-2 is a protein that in humans is encoded by the GABRB2 gene.
Contents
Function
The gamma-aminobutyric acid (GABA) A 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 2 subunit. It is mapped to chromosome 5q34 in a cluster of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion.
Clinical significance
Missense mutations of GABRB2 have been identified in patients with infantile onset epilepsy and intellectual disability.
Interactions
GABRB2 has been shown to interact with TRAK2.
References
GABRB2 Wikipedia(Text) CC BY-SA