Gamma-aminobutyric acid (GABA) A receptor, beta 3
RNA expression pattern

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


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.[1]

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.[2] The GABRB3 gene deficient mouse has been proposed as a model of autism spectrum disorder.[3]


GABRB3 has been shown to interact with AKAP5.[4]

See also


Further reading

External links

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