Entrez gene ID | | 2562 |
Official gene symbol | | GABRB3 |
Full name | | gamma-aminobutyric acid (GABA) A receptor, beta 3 |
Aliases | | ,ECA5,MGC9051, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 15 Locus: 15q11.2-q12 |
Gene position | | 27018935 - 26788693 Map Viewer |
Gene orientation | | minus |
Gene size | | 230243 bp |
Gene sequence |
| |
OMIM ID | | 137192 |
|