Gene Symbol | GABRA1 |
Entrez Gene ID | 2554 |
Full Name | gamma-aminobutyric acid type A receptor alpha1 subunit |
Synonyms | ECA4,EIEE19,EJM,EJM5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3); {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3); Epileptic encephalopathy, early infantile, 19, 615744 (3) |