Background：The protein encoded by this gene is a member of the Janus kinase （JAK） family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID （severe combined immunodeficiency disease）.
