GABRB3, Official Symbol GABRB3provided by HGNC Official Full Name gamma-aminobutyric acid type A receptor subunit beta3provided by HGNC Primary source HGNC:HGNC:4083 See related Ensembl:ENSG00000166206 MIM:137192; AllianceGenome:HGNC:4083 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ECA5; DEE43; EIEE43 Summary This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013] Expression Biased expression in brain (RPKM 22.9), gall bladder (RPKM 6.3) and 7 other tissues See more Orthologs mouse all