Full name: gamma-aminobutyric acid type A receptor subunit alpha1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DEE19; ECA4; EIEE19; EJM; EJM5

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)

Gene size: 52781bp

Exon count: 13