GABRA1 Antibody – Rabbit Polyclonal

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]

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.

Protein type: Membrane protein, integral; Channel, ligand-gated; Transporter, ion channel; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 5q34

Cellular Component: postsynaptic membrane; integral to plasma membrane; plasma membrane; cell junction

Molecular Function: chloride channel activity; GABA-A receptor activity; GABA receptor activity; drug binding; extracellular ligand-gated ion channel activity

Biological Process: synaptic transmission; transport; synaptic transmission, GABAergic; transmembrane transport; gamma-aminobutyric acid signaling pathway

Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 13; Epileptic Encephalopathy, Early Infantile, 19