Western Blot (WB)
(Western blot analysis of extracts of brain cell lines, using GABRG2 antibody.)
Rabbit GABRG2 Polyclonal Antibody | anti-GABRG2 antibody
GABRG2 (GABRG1 (Gamma-aminobutyric Acid Receptor Subunit gamma-2, CAE2, ECA2, GEFSP3) (PE)
WB: 1:500-1:2000
Applications are based on unconjugated antibody.
Western Blot (WB)
(Western blot analysis of extracts of brain cell lines, using GABRG2 antibody.)
Western Blot (WB)
(Western blot analysis of extracts of brain cell lines, using GABRG2 antibody.)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
GABRG2: 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. Defects in GABRG2 are the cause of childhood absence epilepsy type 2 (ECA2). 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). 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). 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); 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. 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Channel, chloride; Transporter, ion channel; Transporter; Membrane protein, integral; Channel, ligand-gated
Chromosomal Location of Human Ortholog: 5q34
Cellular Component: postsynaptic membrane; axon; integral to plasma membrane; cytoplasm; plasma membrane; cell junction
Molecular Function: chloride channel activity; protein binding; GABA-A receptor activity; benzodiazepine receptor activity; extracellular ligand-gated ion channel activity
Biological Process: synaptic transmission; transport; adult behavior; synaptic transmission, GABAergic; transmembrane transport; gamma-aminobutyric acid signaling pathway; post-embryonic development
Disease: Epilepsy, Childhood Absence, Susceptibility To, 2; Generalized Epilepsy With Febrile Seizures Plus, Type 3
Research Articles on GABRG2
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Product Notes
The GABRG2 gabrg2 (Catalog #AAA6417992) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The GABRG2 (GABRG1 (Gamma-aminobutyric Acid Receptor Subunit gamma-2, CAE2, ECA2, GEFSP3) (PE) reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's GABRG2 can be used in a range of immunoassay formats including, but not limited to, Immunohistochemistry (IHC), Western Blot (WB). IHC: 1:50-1:200 WB: 1:500-1:2000 Applications are based on unconjugated antibody. Researchers should empirically determine the suitability of the GABRG2 gabrg2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "GABRG2, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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