Entrez 2562 | Ensembl ENSG00000166206 | |
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Aliases GABRB3, ECA5, gamma-aminobutyric acid type A receptor beta3 subunit External IDs MGI: 95621 HomoloGene: 633 GeneCards: GABRB3 | ||
Gamma-aminobutyric acid receptor subunit beta-3 is a protein that in humans is encoded by the GABRB3 gene.
Contents
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.