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 Akt Signaling. 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.