The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1000. Detects a band of approximately 51 kDa (predicted molecular weight: 51 kDa).
FunctionGABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
Involvement in diseaseDefects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4) [MIM:611136]. A subtype of idiopathic generalized epilepsy 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 may develop. Absence seizures may either remit or persist into adulthood. Defects in GABRA1 are the cause of juvenile myoclonic epilepsy type 5 (EJM5) [MIM:611136]. 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.
Sequence similaritiesBelongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily.