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Genetics Home Reference: your guide to understanding genetic conditions
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ZAP70

Reviewed November 2009

What is the official name of the ZAP70 gene?

The official name of this gene is “zeta-chain (TCR) associated protein kinase 70kDa.”

ZAP70 is the gene's official symbol. The ZAP70 gene is also known by other names, listed below.

What is the normal function of the ZAP70 gene?

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.

Does the ZAP70 gene share characteristics with other genes?

The ZAP70 gene belongs to a family of genes called SH2 domain containing (SH2 domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the ZAP70 gene related to health conditions?

ZAP70-related severe combined immunodeficiency - caused by mutations in the ZAP70 gene

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.

Where is the ZAP70 gene located?

Cytogenetic Location: 2q12

Molecular Location on chromosome 2: base pairs 97,713,567 to 97,739,859

The ZAP70 gene is located on the long (q) arm of chromosome 2 at position 12.

The ZAP70 gene is located on the long (q) arm of chromosome 2 at position 12.

More precisely, the ZAP70 gene is located from base pair 97,713,567 to base pair 97,739,859 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ZAP70?

You and your healthcare professional may find the following resources about ZAP70 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ZAP70 gene or gene products?

  • FLJ17670
  • FLJ17679
  • SRK
  • STD
  • syk-related tyrosine kinase
  • TZK
  • ZAP-70
  • ZAP70_HUMAN
  • zeta-chain associated protein kinase, 70kD
  • zeta-chain associated protein kinase 70kDa

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ZAP70?

acids ; gene ; immune system ; immunodeficiency ; infection ; kinase ; protein ; protein sequence ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Elder ME. SCID due to ZAP-70 deficiency. J Pediatr Hematol Oncol. 1997 Nov-Dec;19(6):546-50. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9407944?dopt=Abstract)
  • Elder ME. T-cell immunodeficiencies. Pediatr Clin North Am. 2000 Dec;47(6):1253-74. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11130995?dopt=Abstract)
  • Gene Review: ZAP70-Related Severe Combined Immunodeficiency (http://www.ncbi.nlm.nih.gov/books/NBK20221/)
  • Grunebaum E, Sharfe N, Roifman CM. Human T cell immunodeficiency: when signal transduction goes wrong. Immunol Res. 2006;35(1-2):117-26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17003514?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7535)
  • OMIM: ZETA-CHAIN-ASSOCIATED PROTEIN KINASE (http://omim.org/entry/176947)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19548248?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18509675?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2009
Published: April 17, 2014