GABRB2
Gamma-aminobutyric acid receptor subunit beta-2 is a protein that in humans is encoded by the GABRB2 gene.Function
The gamma-aminobutyric acid 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.
