Aliases for GABRQ Gene
External Ids for GABRQ Gene
Previous GeneCards Identifiers for GABRQ 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 the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. This gene location is also the candidate region of two different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3). [provided by RefSeq, Nov 2009]
GeneCards Summary for GABRQ Gene
GABRQ (Gamma-Aminobutyric Acid Type A Receptor Theta Subunit) is a Protein Coding gene. Diseases associated with GABRQ include waisman syndrome and neurologic diseases. 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 transmembrane signaling receptor activity and extracellular ligand-gated ion channel activity. An important paralog of this gene is GABRR1.
UniProtKB/Swiss-Prot for GABRQ 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.