Product Information
Molecular Weight73109Da
Protein NameInterleukin-12 receptor subunit beta-1
Human Gene Id3594
Human Swiss Prot NoP42701
Mouse Swiss Prot NoQ60837
SpecificityIL-12Rβ1 Polyclonal Antibody detects endogenous levels of IL-12Rβ1 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameIL12RB1; IL12R; IL12RB; Interleukin-12 receptor subunit beta-1; IL-12 receptor subunit beta-1; IL-12R subunit beta-1; IL-12R-beta-1; IL-12RB1; IL-12 receptor beta component; CD212
Observed Band(KD)73
Functiondisease:Defects in IL12RB1 are a cause of mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, where
Subcellular Locationplasma membrane,external side of plasma membrane,interleukin-12 receptor complex,interleukin-23 receptor complex,
ExpressionColon,Umbilical cord blood,
Backgroundinterleukin 12 receptor subunit beta 1(IL12RB1) Homo sapiens The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014],