{"symbol":"ZAP70","synonyms":["ADMIO2","ZAP-70","STCD","IMD48","TZK"],"name":"zeta-chain (TCR) associated protein kinase 70kDa","description":"This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":7535,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7535","proteins":[{"symbol":"ZAP70_HUMAN","href":"/api/1.0/protein/ZAP70_HUMAN"}],"hgncRootFamilies":[{"name":"SH2 domain containing","href":"/api/1.0/gene_family/SH2+domain+containing"}]}