Entrez gene ID | | 2554 |
Official gene symbol | | GABRA1 |
Full name | | gamma-aminobutyric acid (GABA) A receptor, alpha 1 |
Aliases | | ,ECA4,EJM,EJM5, |
Gene 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] |
Location | | Chromosome: 5 Locus: 5q34-q35 |
Gene position | | 161274197 - 161326965 Map Viewer |
Gene orientation | | plus |
Gene size | | 52769 bp |
Gene sequence |
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OMIM ID | | 137160 |
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