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.
Other Names
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
Related Genetics Topics
Identifiers
- NCBI Gene: 5551
- OMIM: 170280
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
