Aliases for GABRE Gene
External Ids for GABRE Gene
Previous GeneCards Identifiers for GABRE Gene
The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]
GeneCards Summary for GABRE Gene
GABRE (Gamma-Aminobutyric Acid Type A Receptor Epsilon Subunit) is a Protein Coding gene. Diseases associated with GABRE include Glycogen Storage Disease Ia. Among its related pathways are GABAergic synapse and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRG3.
UniProtKB/Swiss-Prot for GABRE 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.