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RefSeq: NM_000215.2,
NP_000206
LocusID:
3718
Cytogenetic:
19p13.1
Domains: B41, pkinase, SH2, TyrKc, S_TKc
Summary: 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). [provided by RefSeq].
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