GABRB3

Gamma-aminobutyric acid receptor subunit beta-3 is a protein that in humans is encoded by the GABRB3 gene.

Function

This gene encodes a member of the ligand-gated ion 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. Alternatively spliced transcript variants encoding isoforms with distinct signal peptides have been described.

Structure

The crystal structure of a human β3 homopentamer was published in 2014.

Clinical significance

Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. The GABRB3 gene has been associated with savant skills accompanying such disorders. The GABRB3 gene deficient mouse has been proposed as a model of autism spectrum disorder.