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IL12RB1 interleukin 12 receptor subunit beta 1

Also known as: CD212; IMD30; IL12RB; IL-12R-BETA1

Summary

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]

Associated conditions

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DescriptionTests
Immunodeficiency 30
MedGen: CN219204OMIM: 614891GeneReviews: Not available
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Genomic context

Location:
19p13.11
Sequence:
Chromosome: 19; NC_000019.10 (18058994..18099027, complement)
Total number of exons:
20

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