GABRB3

GABRB3

Gamma-aminobutyric acid (GABA) A receptor, beta 3
Identifiers
GABRB3 Gene
RNA expression pattern

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.[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]

Interactions

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

See also

References

Further reading

External links

  • Medical Subject Headings (MeSH)

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