GABA A Receptor beta 1 è un gene codificato dal simbolo GABRB1. Comunemente indicato anche come: Gamma-aminobutyric acid receptor subunit beta-1; GABA(A) receptor subunit beta-1; GABRB1. GABA A Receptor beta 1 ha una massa di 54.24kDa, una lunghezza di amminoacidi di 474, ed è implicato in Epileptic encephalopathy, early infantile, 45.
Offriamo 6 anticorpi contro GABA A Receptor beta 1, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
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.
Posizione cellulare
Cell junction > Synapse > Postsynaptic cell membrane. Cell membrane.
