Interleukin 12 receptor, beta 1 subunit

From WikiMD's WELLNESSPEDIA

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.

See also[edit]

References[edit]

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