Article
Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains.
Molecular and cellular biology - 1 Feb 2000
Chen M, Cheng A, Candotti F, Zhou Y J, Hymel A, Fasth A, Notarangelo L D, O'Shea J J
Abstract excerpt
The structure of Janus kinases (JAKs) is unique among protein tyrosine kinases in having tandem, nonidentical kinase and pseudokinase domains. Despite its conservation in evolution, however, the function of the pseudokinase domain remains poorly understood. Lack of JAK3 expression results in severe combined immunodeficiency (SCID). In this study, we analyze two SCID patients with mutations in the JAK3...
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