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.

Interactions

GABRB3 has been shown to interact with AKAP5.

See also

• GABAA receptor
• Heritability of autism

External links

• GABRB3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.