Interleukin 12 receptor, beta 1 subunit

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Interleukin 12 receptor, beta 1 subunit (IL12RB1) is a type of protein that in humans is encoded by the IL12RB1 gene. This protein is a subunit of the interleukin 12 (IL-12) receptor complex. The IL-12 receptor is a heterodimeric receptor formed by IL12RB1 and IL12RB2.

Function[edit]

The IL12RB1 protein is expressed on T cells, natural killer cells, and dendritic cells. It is involved in IL-12-mediated signaling pathway and is important for the differentiation of Th1 cells, a type of T helper cell. IL12RB1 is also involved in enhancing the cytotoxic activity of natural killer cells and promoting the production of IFN-gamma by T cells and natural killer cells.

Clinical significance[edit]

Mutations in the IL12RB1 gene can lead to IL12RB1 deficiency, a primary immunodeficiency disorder. This condition is characterized by increased susceptibility to infections caused by mycobacterium, including tuberculosis and BCG vaccine complications. IL12RB1 deficiency is inherited in an autosomal recessive manner.

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