Background:
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].