Alt. symbols: PFP | P1 | HPLH2

Approved name: perforin 1
Alt. names: perforin 1 (pore forming protein) | Perforin, perforin 1 (preforming protein)

Location: 10q22.1: 70597348 - 70602759 (-)
Gene type: protein_coding, 4 transcripts.

Scores: LoFtool: 0.035100 | pLI: 0.00000014 | LOEUF: 1.189

HGNC: 9360

NCBI: 5551, RefSeq: NG_009615.1

Ensembl: ENSG00000180644.8

LRG_94 | Status: public

OMIM: 170280

Expression | ProteinAtlas

The PRF1 gene encodes the protein perforin. This protein is found in lymphocytes, particularly in T cells and natural killer cells. As a major component of the cytolytic granules, perforin is involved in the process of cytolysis and the regulation of the immune system response. Perforin helps create a channel through the plasma membrane, allowing cytolytic proteins to enter the target 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 cytokines that lead to inflammation and which, in excess, cause tissue damage.

More than 90 PRF1 gene mutations have been reported to cause autosomal recessive familial hemophagocytic lymphohistiocytosis (FHL) type 2 (FHL2) [MIM:603553]. 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 FHL. Mono-allelic mutations in PR F1 have also been reported to cause aplastic anemia (PMID: 17311987). In addition, people with PRF1 mutations are at increased risk of developing blood cancers, such as non-Hodgkin lymphoma or leukemia. Some of these individuals also have FHL2. These 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. [Load More]