Gene:
gamma-aminobutyric acid (GABA) A receptor, beta 3
Gene ID:
204293
Symbol:
GABRB3
Species:
1000
Description:
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 is mapped to chromosome 15q11.2-q12 in a cluster that includes the alpha 5, and gamma 3 subunit genes of the GABA receptor. Alternative splicing generates 2 transcript variants. Deletion mutation of this gene may be involved in the pathogenesis of Angelman syndrome and Prader-Willi syndrome.