Aliases for GABRD Gene
External Ids for GABRD Gene
Previous GeneCards Identifiers for GABRD Gene
Gamma-aminobutyric acid (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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for GABRD Gene
GABRD (Gamma-Aminobutyric Acid Type A Receptor Delta Subunit) is a Protein Coding gene. Diseases associated with GABRD include Epilepsy, Generalized, With Febrile Seizures Plus, Type 5 and Gabrd-Related Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are Apoptosis Pathway 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 GABRR1.
UniProtKB/Swiss-Prot for GABRD 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.