FunctionGABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
Involvement in diseaseDefects 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. Defects in GABRD are the cause of susceptibility to idiopathic generalized epilepsy type 10 (IGE10) [MIM:613060]. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Defects in GABRD are the cause of susceptibility to juvenile myoclonic epilepsy type 7 (EJM7) [MIM:613060]. A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
Sequence similaritiesBelongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-subfamily.
Western blot - GABA A Receptor delta antibody (ab110014)
All lanes : Anti-GABA A Receptor delta antibody (ab110014) at 1/500 dilution
Lane 1 : extracts from HT29 cells (5-30 ug total protein) with no immunizing peptide Lane 2 : extracts from LOVO cells (5-30 ug total protein) with no immunizing peptide Lane 3 : extracts from LOVO cells (5-30 ug total protein) with immunizing peptide (5-10 ug)
Predicted band size : 50 kDa
References for Anti-GABA A Receptor delta antibody (ab110014)