{"symbol":"GABRB3","synonyms":["ECA5","EIEE43"],"name":"gamma-aminobutyric acid (GABA) A receptor, beta 3","description":"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]","ncbiEntrezGeneId":2562,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2562","proteins":[{"symbol":"GBRB3_HUMAN","href":"/api/1.0/protein/GBRB3_HUMAN"}],"hgncRootFamilies":[{"name":"Gamma-aminobutyric acid (GABA) receptors","href":"/api/1.0/gene_family/Gamma-aminobutyric+acid+%28GABA%29+receptors"},{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}