Gamma-Aminobutyric Acid A Receptor Beta 3 (gABRb3)

GABRb3 encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Comparison of the human beta-3 subunit amino acid sequence with beta-3 sequences from rat, cow, and chicken demonstrated a high degree of evolutionary conservation. Most of the sequence differences between species are clustered near the C terminus, within a large intracellular domain of the protein.