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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.
Read more about gene names and symbols on the About page.
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?
Where is the PRF1 gene located?
Cytogenetic Location: 10q22
Molecular Location on chromosome 10: base pairs 70,597,348 to 70,602,775
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 70,597,348 to base pair 70,602,775 on chromosome 10.
See How do geneticists indicate the location of a gene? 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.
What other names do people use for the PRF1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PRF1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.