The γ-aminobutyric acid type A receptor β3 subunit (GABRB3) gene with nine exons spanning 250kb, is mapped to human chromosome 15q12, a hot region of genomic rearrangements. The gene codes for β3 subunit of GABAA receptor, which belongs to the GABA (γ-aminobutyric acid) receptor gene family.
Specificity
Detects ~55 kDa. No cross-reactivity against GABA-A-R-Beta 2 or –Beta1.
Immunogen
Fusion protein amino acids 370-433 of mouse GABA-A_r Beta3, Accession Number AAB60502.
Biochem/physiol Actions
γ-aminobutyric acid type A receptor β3 subunit (GABRB3) is a candidate gene for autism spectrum conditions (ASC). Alteration in the gene results in increased tactile sensitivity, or hypersensitivity. Overexpression of GABRB3 might be implicated in the pathogenesis of heroin dependence. Aberration or mutation of this gene leads to neurodevelopmental disorders, such as Angelman syndrome, Prader-Willi syndrome and schizophrenia. GABRB3 polymorphisms results in nonsyndromic cleft lip and/or palate (NSCL/P).
Features and Benefits
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Physical form
Solution in PBS, pH 7.4, 50% glycerol, and 0.09% sodium azide
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
GABRB3 encoding the β3 subunit of GABAA receptor has been implicated in multiple neuropsychiatric disorders, including substance abuse. Previous studies reported that SNPs at the 5' regulatory region of GABRB3 could regulate GABRB3 gene expression and associated with childhood absence
Autism spectrum conditions have a strong genetic component. Atypical sensory sensitivities are one of the core but neglected features of autism spectrum conditions. GABRB3 is a well-characterised candidate gene for autism spectrum conditions. In mice, heterozygous Gabrb3 deletion is associated
The Journal of neuroscience : the official journal of the Society for Neuroscience, 35(8), 3525-3536 (2015-02-27)
Dopamine is a critical neuromodulator that activates GPCRs in mammals or ligand-gated ion channels in invertebrates. The present study demonstrates that dopamine (0.1-10 mm) exerts novel, opposing effects on different populations of mammalian (rat) GABAA receptors. Using whole-cell patch-clamp electrophysiology
The genes encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits beta 3 (GABRB3), alpha 5 (GABRA5), and gamma 3 (GABRG3) map to chromosome 15q11-q13. The three genes are contained within roughly 800 kb of the distal part of the imprinted
The aim of this study was to evaluate the influence of the γ-aminobutyric acid receptor type A β-3 subunit (GABRB3) polymorphisms in patients with nonsyndromic cleft lip and/or palate (NSCL/P). We carried out a structured case-control analysis of three GABRB3
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