JAK3

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JAK3

A gene on chromosome 19p13.1 that encodes a member of the Janus kinase (JAK) family of tyrosine kinases, which are involved in cytokine-receptor-mediated intracellular signal transduction. JAK3 is primarily expressed in immune cells and transduces a signal in response to activation via tyrosine phosphorylation by interleukin receptors.

Molecular pathology
JAK3 mutations are linked to autosomal severe combined immunodeficiency disease (SCID).
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