GABRA5

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. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]

Full Name

Gamma-Aminobutyric Acid Type A Receptor Alpha5 Subunit

Function

Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671).

May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671).

Biological Process

Associative learning Source: Ensembl
Behavioral fear response Source: Ensembl
Brain development Source: Ensembl
Chemical synaptic transmission Source: GO_Central
Chloride transmembrane transport Source: GO_Central
Cochlea development Source: Ensembl
Gamma-aminobutyric acid signaling pathway Source: GO_Central
Inner ear receptor cell development Source: Ensembl
Innervation Source: Ensembl
Ion transmembrane transport Source: GO_Central
Negative regulation of neuron apoptotic process Source: Ensembl
Nervous system process Source: GO_Central
Regulation of membrane potential Source: GO_Central
Regulation of postsynaptic membrane potential Source: GO_Central
Sensory perception of sound Source: Ensembl
Signal transduction Source: GO_Central
Synaptic transmission, GABAergic Source: GO_Central

Cellular Location

Postsynaptic cell membrane; Cell membrane

Involvement in disease

Developmental and epileptic encephalopathy 79 (DEE79):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum.