Anti-GABRB3

0.5mg/ml if reconstituted with 0.2ml sterile DI water. This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. And this gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. It may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. Protein function: Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital, these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel. [The UniProt Consortium]