Aliases for GABRB1 Gene
External Ids for GABRB1 Gene
Previous GeneCards Identifiers for GABRB1 Gene
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]
GeneCards Summary for GABRB1 Gene
GABRB1 (Gamma-Aminobutyric Acid Type A Receptor Beta1 Subunit) is a Protein Coding gene. Diseases associated with GABRB1 include Epileptic Encephalopathy, Early Infantile, 45 and Schizoaffective Disorder. Among its related pathways are Transmission across Chemical Synapses and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB2.
UniProtKB/Swiss-Prot for GABRB1 Gene
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.
GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.