Aliases for GABRB3 Gene
External Ids for GABRB3 Gene
Previous GeneCards Identifiers for GABRB3 Gene
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
GeneCards Summary for GABRB3 Gene
GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit) is a Protein Coding gene. Diseases associated with GABRB3 include Epileptic Encephalopathy, Early Infantile, 43 and Epilepsy, Childhood Absence 5. Among its related pathways are Akt Signaling and Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. 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 GABRB3 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.