Rat gamma-aminobutyric acid (GABA) A receptor, gamma 2 ELISA Kit | GABRG2 elisa kit
Rat Gamma-aminobutyric acid receptor subunit gamma-2, GABRG2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
subunit of GABA receptors, which bind benzodiazepines and act as inhibitory ion channels in the brain [RGD, Feb 2006]
Uniprot Description
GABRG2 iso2: 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: Channel, chloride; Membrane protein, multi-pass; Membrane protein, integral; Transporter, ion channel; Transporter; Channel, ligand-gated
Cellular Component: postsynaptic membrane; axon; integral to plasma membrane; cytoplasm; cell junction
Molecular Function: chloride channel activity; protein binding; GABA-A receptor activity; GABA receptor activity; inhibitory extracellular ligand-gated ion channel activity
Biological Process: synaptic transmission; adult behavior; synaptic transmission, GABAergic; chloride transport; signal transduction; gamma-aminobutyric acid signaling pathway; post-embryonic development
Research Articles on GABRG2
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Product Notes
The Rat GABRG2 gabrg2 (Catalog #AAA9336526) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9336526 ELISA Kit recognizes Rat GABRG2. It is sometimes possible for the material contained within the vial of "gamma-aminobutyric acid (GABA) A receptor, gamma 2, ELISA Kit" 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
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