GABA A Receptor beta 1 est un gène codé par le symbole GABRB1. Communément appelé aussi: Gamma-aminobutyric acid receptor subunit beta-1; GABA(A) receptor subunit beta-1; GABRB1. GABA A Receptor beta 1 a une masse de 54.24kDa, une longueur d'acide aminé de 474, et est impliqué dans Epileptic encephalopathy, early infantile, 45.
Nous proposons 6 des anticorps contre GABA A Receptor beta 1, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia.
Implication dans la maladie
Epileptic encephalopathy, early infantile, 45: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.
Similitudes de séquence
Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB1 sub-subfamily.
Localisation cellulaire
Cell junction > Synapse > Postsynaptic cell membrane. Cell membrane.
