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JAK3 Janus kinase 3

Also known as: JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN

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, Jul 2008]

Genomic context

Location:
19p13.1
Sequence:
Chromosome: 19; NC_000019.10 (17824782..17848071, complement)
Total number of exons:
25

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