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ZAP70

MIM.176947 2q12

Wednesday 3 September 2003

Protein-tyrosine kinases (PTKs) play an integral role in T-cell activation. Stimulation of the T-cell antigen receptor results in tyrosine phosphorylation of a number of cellular substrates. One of these is the TCR-zeta chain (MIM.186780), which can mediate the transduction of extracellular stimuli into cellular effector functions.

ZAP70 is a 70-kD tyrosine phosphoprotein that associates with the zeta chain and undergoes tyrosine phosphorylation following TCR stimulation.

The ZAP70 gene is expressed in T- and natural killer cells.

Pathology

- germline mutations in immunodeficiency fue to selective T-cell defect

- prognostic factor in LLC (14726163)

References

- Arpaia, E.; Shahar, M.; Dadi, H.; Cohen, A.; Roifman, C. M. : Defective T cell receptor signaling and CD8(+) thymic selection in humans lacking Zap-70 kinase. Cell 76: 947-958, 1994. PubMed ID : 8124727

- Chan, A. C.; Kadlecek, T. A.; Elder, M. E.; Filipovich, A. H.; Kuo, W.-L.; Iwashima, M.; Parslow, T. G.; Weiss, A. : ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science 264: 1559-1601, 1994.

- Elder, M. E.; Lin, D.; Clever, J.; Chan, A. C.; Hope, T. J.; Weiss, A.; Parslow, T. G. : Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 264: 1596-1599, 1994. PubMed ID : 8202712