{"symbol":"JAK3","synonyms":["JAK-3","LJAK","JAKL","L-JAK","JAK3_HUMAN"],"name":"Janus kinase 3","description":"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]","ncbiEntrezGeneId":3718,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3718","proteins":[{"symbol":"JAK3_HUMAN","href":"/api/1.0/protein/JAK3_HUMAN"}],"hgncRootFamilies":[]}