GABA A Receptor beta 1 ist ein Gen, das durch das Symbol GABRB1 kodiert wird. Im Allgemeinen auch bezeichnet als: Gamma-aminobutyric acid receptor subunit beta-1; GABA(A) receptor subunit beta-1; GABRB1. GABA A Receptor beta 1 hat eine Masse von 54.24kDa, eine Aminosäurelänge von 474, und ist an Epileptic encephalopathy, early infantile, 45 beteiligt.
Wir bieten 6 antikörper gegen GABA A Receptor beta 1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
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.
Zellort
Cell junction > Synapse > Postsynaptic cell membrane. Cell membrane.
