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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GABRB3 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2562
Official gene symbolGABRB3
Full namegamma-aminobutyric acid (GABA) A receptor, beta 3
Aliases,ECA5,MGC9051,
Gene summaryThis 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]
LocationChromosome: 15   Locus: 15q11.2-q12
Gene position27018935 - 26788693  Map Viewer
Gene orientationminus
Gene size230243 bp
Gene sequence
OMIM ID137192