{"symbol":"GABRA1","synonyms":["EIEE19","EJM5","ECA4"],"name":"gamma-aminobutyric acid (GABA) A receptor, alpha 1","description":"This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":2554,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2554","proteins":[{"symbol":"GBRA1_HUMAN","href":"/api/1.0/protein/GBRA1_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"},{"name":"Gamma-aminobutyric acid (GABA) receptors","href":"/api/1.0/gene_family/Gamma-aminobutyric+acid+%28GABA%29+receptors"}]}