This gene encodes an enzyme belonging to the proteintyrosine kinase family, and it plays a role in T-cell developmentand lymphocyte activation. This enzyme, which is phosphorylated ontyrosine residues upon T-cell antigen receptor (TCR) stimulation,functions in the initial step of TCR-mediated signal transductionin combination with the Src family kinases, Lck and Fyn. Thisenzyme is also essential for thymocyte development. Mutations inthis gene cause selective T-cell defect, a severe combinedimmunodeficiency disease characterized by a selective absence ofCD8-positive T-cells. Two transcript variants that encode differentisoforms have been found for this gene.
Pathway
Adaptive Immune System; B Cell Receptor Signaling Pathway; Generation of second messenger molecules; Immune System; Inflammatory Response Pathway; Interferon type I; NF-kappa B signaling pathway; Natural killer cell mediated cytotoxicity;
Citations
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