JAK3 is a member of the JAK family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. Low levels of JAK3 expression is detected in immature hematopoietic cells, which dramatically increases during terminal differentiation of these cells suggesting a role of JAK3 in the differentiation of hematopoietic cells. Mutations in JAK3 are associated with autosomal SCID (severe combined immunodeficiency disease). Mice lacking JAK3 show a severe block in B-cell development at the pre-B stage in bone marrow suggesting that JAK3 is critical for the progression of B-cell development in the bone marrow.
Science (New York, N.Y.), 270(5237), 797-800 (1995-11-03)
Males with X-linked severe combined immunodeficiency (XSCID) have defects in the common cytokine receptor gamma chain (gamma c) gene that encodes a shared, essential component of the receptors of interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15. The Janus family tyrosine
Science (New York, N.Y.), 270(5237), 794-797 (1995-11-03)
Biochemical studies of signaling mediated by many cytokine and growth factor receptors have implicated members of the Jak family of tyrosine kinases in these pathways. Specifically, Jak3 has been shown to be associated with the interleukin-2 (IL-2) receptor gamma chain
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