Function
Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient.
Biological Context
Subcellular Location: Postsynaptic cell membrane (Multi-pass membrane protein); Cell membrane (Multi-pass membrane protein); Cytoplasmic vesicle membrane
Tissue Specificity: Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression
Disease Association: Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) : 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. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Gamma-aminobutyric acid receptor subunit beta-2 (GABRB2), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 26-244aa, with N-terminal 6xHis-tagged tag, molecular weight 29.3kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
