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Human IL12B wild-type allele is located within 5q31.1-q33.1 and is approximately 16 kb in length. This allele, which encodes interleukin-12 beta chain protein, plays a role in promoting the growth of both T cells and natural killer cells. It is also involved in the differentiation of both Th1 and Th2 cells. Overexpression of the IL12B gene is associated with multiple sclerosis. A polymorphism in the promoter region of this gene is associated with the severity of both atopic and non-atopic asthma in children. Heritable defects in the IL12B gene are a cause of susceptibility to mycobacterial disease.
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