| 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) | 
                   
                 
                  
 
                  
                    
                   
                 
                  
                    
                    
                      
                    
                    
			
			
			
			
			
			
			
			
			
			
            
                    
              
              
              
              
              
              
              
              
              
              
              
              
              
              
              
              
              
                                    
                                        
                                        
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