Summary
Performance
Immunogen
Application
Background
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],disease:Defects in GABRD are the cause of susceptibility to generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to a rare familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.,function: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.,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.,
Research Area
Neuroactive ligand-receptor interaction;
