Product Information
Molecular Weight50160Da
Protein NameGamma-aminobutyric acid receptor subunit alpha-1
Human Gene Id2554
Human Swiss Prot NoP14867
Mouse Gene Id14394
Mouse Swiss Prot NoP62812
Rat Gene Id29705
Rat Swiss Prot NoP62813
SpecificityGABAA Rα1 Polyclonal Antibody detects endogenous levels of GABAA Rα1 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameGABRA1; Gamma-aminobutyric acid receptor subunit alpha-1; GABA(A) receptor subunit alpha-1
Observed Band(KD)50
Functiondisease:Defects in GABRA1 are a cause of juvenile myoclonic epilepsy (EJM) [MIM:606904]. EJM is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.,disease:Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4) [MIM:611136]. ECA4 is a subtype of idiopathic generalized epilepsy (IGE) characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Absence seizures may either remit or persist into adulthood.,function:GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GAB
Subcellular Locationplasma membrane,integral component of plasma membrane,integral component of membrane,cell junction,chloride channel complex,synapse,postsynaptic membrane,GABA receptor complex,GABA-A receptor complex,
ExpressionBrain,Cerebellum,Cerebrum,
Backgroundgamma-aminobutyric acid type A receptor alpha1 subunit(GABRA1) Homo sapiens 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],