Molecular weight (DA)
55kD
Immunogen
Synthetic Peptide of GABA A Receptor γ2
Specificity
GABA A Receptor γ2 protein(A229) detects endogenous levels of GABA A Receptor γ2
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:1000-2000, IHC 1:100-200. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using specific immunogen.
Background
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],
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, symmetr
Protein name
Gamma-aminobutyric acid receptor subunit gamma-2 (GABA(A) receptor subunit gamma-2)
Abbreviation
GABA A Receptor γ2
Other name
Gamma-aminobutyric acid receptor subunit gamma-2 (GABA(A) receptor subunit gamma-2)
Fields
>>Neuroactive ligand-receptor interaction;>>Retrograde endocannabinoid signaling;>>GABAergic synapse;>>Morphine addiction;>>Nicotine addiction
Human protein sequence Database
P18507
Mouse protein sequence database
P22723
Rat protein sequence database
P18508
Cellular localization
Cell junction, synapse, postsynaptic cell membrane ; Multi-pass membrane protein . Cell membrane ; Multi-pass membrane protein . Cell projection, dendrite . Cytoplasmic vesicle membrane .
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