rs1253598282
This variant is located in the IL12RB1 gene.
▶ClinVar annotation
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
View on ClinVar →About IL12RB1
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]
View all IL12RB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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