Reviewed January 2011
What is the official name of the PRF1 gene?
The official name of this gene is “perforin 1 (pore forming protein).”
PRF1 is the gene's official symbol. The PRF1 gene is also known by other names, listed below.
What is the normal function of the PRF1 gene?
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.
How are changes in the PRF1 gene related to health conditions?
- familial hemophagocytic lymphohistiocytosis - caused by mutations in the PRF1 gene
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.
- cancers - associated with the PRF1 gene
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.
Where is the PRF1 gene located?
Cytogenetic Location: 10q22
Molecular Location on chromosome 10: base pairs 70,597,347 to 70,602,774
The PRF1 gene is located on the long (q) arm of chromosome 10 at position 22.
More precisely, the PRF1 gene is located from base pair 70,597,347 to base pair 70,602,774 on chromosome 10.
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 PRF1?
You and your healthcare professional may find the following resources about PRF1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28PRF1%5BTIAB%5D%29%20OR%20%28perforin%201%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/170280)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_PRF1.html)
- HGNC Gene Family: C2 domain containing - ungrouped (http://www.genenames.org/cgi-bin/genefamilies/set/839)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=9360)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5551)
What other names do people use for the PRF1 gene or gene products?
- lymphocyte pore forming protein
- lymphocyte pore-forming protein
- perforin-1 precursor
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 PRF1?
immune response ;
immune system ;
NK cells ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20075937?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20378576?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/16720836?dopt=Abstract)
- Filipovich AH. Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin Allergy Clin Immunol. 2006 Dec;6(6):410-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17088644?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/18710388?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5551)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/17873118?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/17266056?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/16278825?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.