Not available outside of the UK & Ireland.
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).
Disclaimer
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Features and Benefits
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General description
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.
Immunogen
Fusion protein amino acids 370-433 of mouse GABA-A_r Beta3, Accession Number AAB60502.
Physical form
Solution in PBS, pH 7.4, 50% glycerol, and 0.09% sodium azide
Specificity
Detects ~55 kDa. No cross-reactivity against GABA-A-R-Beta 2 or –Beta1.
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