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PRF1 gene

perforin 1
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Normal Function

The PRF1 gene provides instructions for making a protein called perforin. This protein is found in immune cells (lymphocytes) called T cells and natural killer (NK) cells, which destroy other 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. One of the main ways in which T cells and NK cells destroy other cells is to transport and secrete these cytolytic granules, which contain cell-killing proteins, onto the membranes of the target cells. Perforin helps create a channel through the membrane, allowing cytolytic proteins to enter the cell and trigger it to self-destruct.

This cytolytic 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 that lead to inflammation and which, in excess, cause tissue damage.

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 the production of perforin. The resulting shortage of functional perforin prevents it from carrying out its role in cell destruction and immune system regulation, leading to the exaggerated immune response characteristic of familial hemophagocytic lymphohistiocytosis.

More About This Health Condition

Cancers

People with PRF1 gene mutations are at increased risk of developing cancers of blood-forming cells (leukemia and lymphoma). Some of these individuals also have familial hemophagocytic lymphohistiocytosis. PRF1 gene mutations impair the immune system's ability to destroy abnormal cells, allowing them to grow and divide in an uncontrolled way and 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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Brennan AJ, Chia J, Trapani JA, Voskoboinik I. Perforin deficiency and susceptibility to cancer. Cell Death Differ. 2010 Apr;17(4):607-15. doi: 10.1038/cdd.2009.212. Epub 2010 Jan 15. Review. Citation on PubMed
  • Cetica V, Pende D, Griffiths GM, Aricò M. Molecular basis of familial hemophagocytic lymphohistiocytosis. Haematologica. 2010 Apr;95(4):538-41. doi: 10.3324/haematol.2009.019562. Citation on PubMed or Free article on PubMed Central
  • Clementi R, Chiocchetti A, Cappellano G, Cerutti E, Ferretti M, Orilieri E, Dianzani I, Ferrarini M, Bregni M, Danesino C, Bozzi V, Putti MC, Cerutti F, Cometa A, Locatelli F, Maccario R, Ramenghi U, Dianzani U. Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function. Blood. 2006 Nov 1;108(9):3079-84. Epub 2006 May 23. Citation on PubMed
  • Filipovich AH. Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin Allergy Clin Immunol. 2006 Dec;6(6):410-5. Review. Citation on PubMed
  • Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol. 2008 Oct;143(1):75-83. doi: 10.1111/j.1365-2141.2008.07315.x. Epub 2008 Aug 15. Citation on PubMed
  • Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M; Histiocyte Society HLH Study group. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet. 2008 Jan;45(1):15-21. Epub 2007 Sep 14. Citation on PubMed
  • Ueda I, Kurokawa Y, Koike K, Ito S, Sakata A, Matsumora T, Fukushima T, Morimoto A, Ishii E, Imashuku S. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. Am J Hematol. 2007 Jun;82(6):427-32. Citation on PubMed
  • Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat. 2006 Jan;27(1):62-8. Citation on PubMed
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