保存方法Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid repeated freeze / thaw cycles.
バッファーPreservative: 0.09% Sodium azide
Constituents: 2% Sucrose, PBS
Concentration information loading...
精製度Immunogen affinity purified
特記事項（精製）ab82970 is purified by a peptide affinity chromatography method.
Our Abpromise guarantee covers the use of ab82970 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||Use a concentration of 1 µg/ml. Predicted molecular weight: 54 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.|
|ELISA||Use at an assay dependent concentration.
ELISA titre using peptide based assay, 1:312500.
機能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.
関連疾患Defects in GABRG2 are the cause of childhood absence epilepsy type 2 (ECA2) [MIM:607681]. ECA2 is a subtype of idiopathic generalized epilepsy (IGE) characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Some individuals manifest ECA2 occurring in combination with febrile convulsions.
Defects in GABRG2 are the cause of familial febrile convulsions type 8 (FEB8) [MIM:611277]. A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause. Febrile convulsions affect 5-12% of infants and children up to 6 years of age. There is epidemiological evidence that febrile seizures are associated with subsequent afebrile and unprovoked seizures in 2% to 7% of patients.
Defects in GABRG2 are the cause of generalized epilepsy with febrile seizures plus type 3 (GEFS+3) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to a rare autosomal dominant, 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 GABRG2 are a cause of severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]; also called Dravet syndrome. SMEI is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus.
配列類似性Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily.
翻訳後修飾Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability.
細胞内局在Cell junction > synapse > postsynaptic cell membrane. Cell membrane.
- Information by UniProt
- CAE 2 antibody
- CAE2 antibody
- ECA 2 antibody
ab82970 has not yet been referenced specifically in any publications.