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PRF1 gene

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

PRF1 gene

The PRF1 gene provides instructions for making perforin, a protein essential for immune system function and the destruction of abnormal or unneeded cells.

Normal Function

The PRF1 gene provides instructions for making a protein called perforin. This protein is found in immune cells called T cells and natural killer (NK) cells. Perforin is involved in the process of cell destruction (cytolysis) and the regulation of the immune system.

Perforin is a major component of structures called cytolytic granules within T cells and NK cells. When these cells destroy other cells, they secrete these granules onto the membranes of target cells. Perforin helps create a channel through the membrane, allowing cell-killing proteins to enter the target cell and trigger it to self-destruct.

This mechanism also helps regulate the immune system by destroying unneeded T cells. Controlling the number of T cells prevents the overproduction of immune proteins called cytokines, which can lead to inflammation and tissue damage if present in excess.

Health Conditions Related to Genetic Changes

Familial hemophagocytic lymphohistiocytosis

More than 90 PRF1 gene mutations have been identified in people with familial hemophagocytic lymphohistiocytosis. These mutations result in the production of a defective perforin protein or prevent its production entirely. The resulting shortage of functional perforin prevents the immune system from carrying out its role in cell destruction and regulation, leading to the exaggerated immune response characteristic of this condition.

Cancers

People with PRF1 gene mutations are at an increased risk of developing cancers of blood-forming cells, such as leukemia and lymphoma. Because these mutations impair the immune system's ability to destroy abnormal cells, the cells are able to grow and divide in an uncontrolled way, leading to the development of cancer.

Other Names for This Gene

  • cytolysin
  • FLH2
  • HPLH2
  • lymphocyte pore forming protein
  • lymphocyte pore-forming protein
  • MGC65093
  • OTTHUMP00000019759
  • P1
  • PERF_HUMAN
  • perforin 1 (pore forming protein)
  • perforin-1
  • perforin-1 precursor
  • PFN1
  • PFP

Frequently Asked Questions

Diagnosis usually begins with a pediatrician or hematologist noticing symptoms such as persistent fever, enlarged liver or spleen, and low blood cell counts. A specific blood test called a lymphocyte degranulation assay (LDA) is often performed to measure how well T cells and NK cells release perforin. If this test shows reduced perforin release, genetic testing is then conducted to confirm specific mutations in the PRF1 gene, which distinguishes it from other causes of HLH.
Individuals with PRF1 mutations who survive the initial phase of hemophagocytic lymphohistiocytosis face an increased risk of developing blood-forming cancers, such as leukemia and lymphoma. This occurs because the defective perforin impairs the immune system's ability to identify and destroy abnormal or pre-cancerous cells. Consequently, these patients require regular monitoring by oncologists and hematologists to detect any signs of malignant transformation early.
Standard immunosuppressive therapy, such as the HLH-94 or HLH-2004 protocols, is used to control the life-threatening inflammation and cytokine storm associated with FHL. However, because the underlying genetic defect in perforin production remains, these treatments are not curative. For many patients, especially those with severe mutations, hematopoietic stem cell transplantation (HSCT) is considered the only curative option to replace the defective immune cells with healthy ones.
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.