GABRB1

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]

Gamma-Aminobutyric Acid Type A Receptor Beta1 Subunit

Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Cellular response to histamine Source: UniProtKB
Central nervous system neuron development Source: Ensembl
Chemical synaptic transmission Source: GO_Central
Chloride transmembrane transport Source: GO_Central
Gamma-aminobutyric acid signaling pathway Source: UniProtKB
Ion transmembrane transport Source: GO_Central
Ion transport Source: UniProtKB
Nervous system process Source: GO_Central
Ovulation cycle Source: Ensembl
Regulation of membrane potential Source: GO_Central
Response to progesterone Source: Ensembl
Response to toxic substance Source: Ensembl
Signal transduction Source: GO_Central

Postsynaptic cell membrane; Cell membrane

Developmental and epileptic encephalopathy 45 (DEE45):
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.