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GABRA1 GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4). 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). 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. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily. Note: This description may include information from UniProtKB.
Protein type: Channel, ligand-gated; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: 11 A5|11 24.97 cM
Cellular Component: cell junction; cytoplasmic vesicle; integral component of membrane; integral component of plasma membrane; membrane; plasma membrane; postsynaptic membrane; synapse
Molecular Function: chloride channel activity; drug binding; extracellular ligand-gated ion channel activity; GABA receptor activity; GABA-A receptor activity; GABA-gated chloride ion channel activity; ion channel activity; protein binding
Biological Process: chloride transport; gamma-aminobutyric acid signaling pathway; ion transport; regulation of postsynaptic membrane potential; synaptic transmission; synaptic transmission, GABAergic; transport
Reference #:  P62812 (UniProtKB)
Alt. Names/Synonyms: GABA(A) receptor subunit alpha-1; GABAA alpha 1; Gabra-1; Gabra1; gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1; gamma-aminobutyric acid (GABA-A) receptor, subunit alpha 1; Gamma-aminobutyric acid receptor subunit alpha-1; GBRA1; OTTMUSP00000005606
Gene Symbols: Gabra1
Molecular weight: 51,754 Da
Basal Isoelectric point: 9.34  Predict pI for various phosphorylation states
CST Pathways:  PI3K/Akt Signaling
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