Aliases for GABRG3 Gene
External Ids for GABRG3 Gene
Previous GeneCards Identifiers for GABRG3 Gene
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. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
GeneCards Summary for GABRG3 Gene
GABRG3 (Gamma-Aminobutyric Acid Type A Receptor Gamma3 Subunit) is a Protein Coding gene. Diseases associated with GABRG3 include autistic disorder and autism spectrum disorder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA4.
UniProtKB/Swiss-Prot for GABRG3 Gene
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral 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.