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ZAP70 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ZAP70 gene

The ZAP70 gene is essential for the development and activation of T cells, and mutations in this gene lead to a form of severe combined immunodeficiency.

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.

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.

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

Frequently Asked Questions

Carrier testing can be done for partners, and prenatal diagnosis (CVS or amniocentesis) or pre‑implantation genetic testing (PGT‑M) with IVF can identify embryos without the mutation, allowing informed family planning decisions.
Diagnosis usually starts with newborn screening that detects low T‑cell receptor excision circles (TRECs). Confirmatory testing includes flow cytometry showing absent CD8+ T cells and dysfunctional CD4+ T cells, followed by genetic sequencing of the ZAP70 gene to identify pathogenic mutations.
The standard curative treatment is hematopoietic stem cell transplantation (HSCT) from a matched donor, ideally performed within the first few months of life before severe infections occur. Gene therapy is under investigation but not yet widely available. Early transplant improves survival and immune reconstitution.
Look for fever, persistent cough, rapid breathing, vomiting, diarrhea, or skin infections that don’t improve with usual antibiotics. Any sign of a new infection in a newborn with ZAP70 deficiency should be treated as an emergency because the immune system cannot fight pathogens effectively.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.