NCBI Description of GABRB3
|This gene encodes a member of the ligand-gated ionic 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. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described.|
Community Annotation of GABRB3 Add / Edit GABRB3: Annotations
No community annotations yet for GABRB3.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.