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PRF1 Full Name
perforin 1 (pore forming protein)
PRF1 Introduction
The immune system depends on Perforin 1 (PRF1) as its main pore-forming protein which cytotoxic lymphocytes express including CD8+ T cells and natural killer (NK) cells. The immune system depends on PRF1 to perform its function of killing infected cells and cancer cells. The immune cells first detect their targets before releasing perforin which creates membrane pores that allow granzymes and death-inducing molecules to enter target cells. The target cells undergo programmed death through the formation of transmembrane pores which perforin creates in their membranes. The PRF1 gene encodes PRF1 which maintains high conservation between mammalian species because of its vital function in immune protection.
Figure 1. Perforin 1 in Cancer: Therapy Modalities Across Cancer Types.(Source: Guan X, et al.; 2024
The cytotoxic process depends on perforin to work together with granzymes for its execution. The perforin pores enable granzymes to enter cytoplasmic space while simultaneously disrupting cellular equilibrium which results in apoptosis. The immune system depends on this mechanism to fight viral infections and stop cancer cells from multiplying. Perforin serves dual functions in immune regulation through its ability to control specific immune cells which helps preserve immune tolerance and homeostasis.
Mutations or deletions in PRF1 cause severe immunological defects. Loss-of-function mutations, either homozygous or compound heterozygous, in PRF1 cause familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a life-threatening hyperinflammatory syndrome characterized by unrestrained activation of lymphocytes and macrophages. In addition, defective perforin has been linked to increased viral susceptibility as well as cancer. Recently, there have also been associations of PRF1 with autoimmune disease.
Alternate Names for PRF1
PRF1
perforin 1 (pore forming protein)
P1
PFP
FLH2
PFN1
HPLH2
perforin-1
cytolysin
lymphocyte pore forming protein
lymphocyte pore-forming protein