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 (GABA) A Receptor, Theta) is a Protein Coding gene. Diseases associated with GABRQ include waisman syndrome. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include transmembrane signaling receptor activity and extracellular ligand-gated ion channel activity.
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, responsible for mediating the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta). The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites for benzodiazepines, barbiturates, neurosteroids and ethanol.