ZAP70 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/zap70

Zeta chain of T cell receptor associated protein kinase 70

genes

Information

Subjects: Genetics & Heredity

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Peter Tang

View Times: 202

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

1. Normal Function

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.

2. Health Conditions Related to Genetic Changes

2.1. 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.

3. Other Names for This Gene

FLJ17670
FLJ17679
SRK
STD
syk-related tyrosine kinase
TZK
ZAP-70
ZAP70_HUMAN
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

References

Elder ME. SCID due to ZAP-70 deficiency. J Pediatr Hematol Oncol. 1997Nov-Dec;19(6):546-50. Review.
Elder ME. T-cell immunodeficiencies. Pediatr Clin North Am. 2000Dec;47(6):1253-74. Review.
Grunebaum E, Sharfe N, Roifman CM. Human T cell immunodeficiency: when signal transduction goes wrong. Immunol Res. 2006;35(1-2):117-26. Review.
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 onsetimmunodeficiency and no autoimmunity. Eur J Immunol. 2009 Jul;39(7):1966-76. doi:10.1002/eji.200939385.
Roifman CM, Dadi H, Somech R, Nahum A, Sharfe N. Characterization ofζ-associated protein, 70 kd (ZAP70)-deficient human lymphocytes. J Allergy ClinImmunol. 2010 Dec;126(6):1226-33.e1. doi: 10.1016/j.jaci.2010.07.029.
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 thediagnosis of patients with ZAP70 deficiency. Eur J Pediatr. 2009Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x.
Walkovich K, Vander Lugt M. ZAP70-Related Combined Immunodeficiency. 2009 Oct 20 [updated 2017 Jun 8]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK20221/

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