GABRA1

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]

Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit

Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725).

Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750).

The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity).

The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750).

GABRA1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection (By similarity).

Functions also as histamine receptor and mediates cellular responses to histamine (By similarity).

Cellular response to histamine Source: Ensembl
Chemical synaptic transmission Source: GO_Central
Chloride transmembrane transport Source: GO_Central
Gamma-aminobutyric acid signaling pathway Source: GO_Central
Inhibitory synapse assembly Source: UniProtKB
Ion transmembrane transport Source: GO_Central
Nervous system process Source: GO_Central
Regulation of membrane potential Source: GO_Central
Regulation of postsynaptic membrane potential Source: GO_Central
Signal transduction Source: GO_Central
Synaptic transmission, GABAergic Source: BHF-UCL

Postsynaptic cell membrane; Cell membrane; Cytoplasmic vesicle membrane

Epilepsy, childhood absence 4 (ECA4):
A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Epilepsy, idiopathic generalized 13 (EIG13):
A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures.
Juvenile myoclonic epilepsy 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.
Developmental and epileptic encephalopathy 19 (DEE19):
A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability.

Glycosylated.