The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. T cells identify foreign substances and defend the body against infection.
The ZAP70 gene is important for the development and function of several types of T cells. These include cytotoxic T cells (CD8+ T cells), whose functions include destroying cells infected by viruses. The ZAP70 gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct and assist the functions of the immune system by influencing the activities of other immune system cells.
Health Conditions Related to Genetic Changes
ZAP70-related severe combined immunodeficiency
More than 12 mutations in the ZAP70 gene have been identified in people with ZAP70-related severe combined immunodeficiency (SCID). These mutations either change single protein building blocks (amino acids) in the protein sequence or disrupt how genetic information is pieced together to make the blueprint for producing the protein.
Mutations in the ZAP70 gene prevent the production of zeta-chain-associated protein kinase or result in a protein that is unstable and cannot perform its function. A loss of functional zeta-chain-associated protein kinase leads to the absence of CD8+ T cells and an excess of inactive CD4+ T cells. The resulting shortage of active T cells causes people with ZAP70-related SCID to be more susceptible to infection.More About This Health Condition
Other Names for This Gene
- syk-related tyrosine kinase
- zeta chain of T cell receptor associated protein kinase 70kDa
- zeta chain of T-cell receptor associated protein kinase 70
- zeta-chain (TCR) associated protein kinase 70kDa
- zeta-chain associated protein kinase 70kDa
- zeta-chain associated protein kinase, 70kD
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Elder ME. SCID due to ZAP-70 deficiency. J Pediatr Hematol Oncol. 1997 Nov-Dec;19(6):546-50. doi: 10.1097/00043426-199711000-00014. No abstract available. Citation on PubMed
- Elder ME. T-cell immunodeficiencies. Pediatr Clin North Am. 2000 Dec;47(6):1253-74. doi: 10.1016/s0031-3955(05)70270-4. Citation on PubMed
- Grunebaum E, Sharfe N, Roifman CM. Human T cell immunodeficiency: when signal transduction goes wrong. Immunol Res. 2006;35(1-2):117-26. doi: 10.1385/ir:35:1:117. Citation on PubMed
- Picard C, Dogniaux S, Chemin K, Maciorowski Z, Lim A, Mazerolles F, Rieux-Laucat F, Stolzenberg MC, Debre M, Magny JP, Le Deist F, Fischer A, Hivroz C. Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity. Eur J Immunol. 2009 Jul;39(7):1966-76. doi: 10.1002/eji.200939385. Citation on PubMed
- Roifman CM, Dadi H, Somech R, Nahum A, Sharfe N. Characterization of zeta-associated protein, 70 kd (ZAP70)-deficient human lymphocytes. J Allergy Clin Immunol. 2010 Dec;126(6):1226-33.e1. doi: 10.1016/j.jaci.2010.07.029. Citation on PubMed
- Turul T, Tezcan I, Artac H, de Bruin-Versteeg S, Barendregt BH, Reisli I, Sanal O, van Dongen JJ, van der Burg M. Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur J Pediatr. 2009 Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x. Epub 2008 May 29. Citation on PubMed
- Walkovich K, Vander Lugt M. ZAP70-Related Combined Immunodeficiency. 2009 Oct 20 [updated 2021 Sep 23]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK20221/ Citation on PubMed
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