ITM3554
ITM3554
- Catalog: ITM3554
- Gene/Protein: GABRG2
- Product Description: Immunotag™ GABA A Receptor γ2 Polyclonal Antibody
385.0000
Price in reward points: 385
| Antibody Specification | |
| Datasheet | 
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| Target Protein | GABA A Receptor γ2 |
| Clonality | Polyclonal |
| Storage/Stability | -20°C/1 year |
| Application | WB,IHC-p |
| Recommended Dilution | WB 1:1000-2000, IHC 1:100-200 |
| Concentration | 1 mg/ml |
| Reactive Species | Human,Rat,Mouse |
| Host Species | Rabbit |
| Immunogen | Synthetic Peptide of GABA A Receptor γ2 |
| Specificity | GABA A Receptor γ2 protein(A229) detects endogenous levels of GABA A Receptor γ2 |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using specific immunogen |
| Form | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Gene Name | GABRG2 |
| Accession No. | P18507 P22723 P18508 |
| Alternate Names | Gamma-aminobutyric acid receptor subunit gamma-2 (GABA(A) receptor subunit gamma-2) |
| Description | gamma-aminobutyric acid type A receptor gamma2 subunit(GABRG2) Homo sapiens This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008], |
| Cell Pathway/ Category | Neuroactive ligand-receptor interaction, |
| Protein Expression | Brain, |
| Subcellular Localization | plasma membrane,integral component of plasma membrane,integral component of membrane,cell junction,axon,dendrite membrane,chloride channel complex,postsynaptic membrane,GABA-A receptor complex, |
| Protein Function | disease: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.,disease: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 [MIM:611277].,disease: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.,disease: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.,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.,miscellaneous:This subunit carries the benzodiazepine binding site.,online information:Forbidden fruit - Issue 56 of March 2005,PTM:Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability.,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. Interacts with GABARAP., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |
| Material Safety Data Sheet | |
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