GABRA1, Official Symbol GABRA1provided by HGNC Official Full Name gamma-aminobutyric acid type A receptor subunit alpha1provided by HGNC Primary source HGNC:HGNC:4075 See related Ensembl:ENSG00000022355 MIM:137160; AllianceGenome:HGNC:4075 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 EJM; ECA4; EJM5; DEE19; EIEE19 Summary 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] Expression Restricted expression toward brain (RPKM 37.3) See more Orthologs mouse all