| PRF1 |
| LOCUS ID | 5551 | ||||||||||
| GENE_SYMBOL | PRF1 | ||||||||||
| GENE NAME | perforin 1 | ||||||||||
| SYNONYMNS | P1, PFP, HPLH2 | ||||||||||
| CHROMOSOME | 10 | ||||||||||
| HOMOLOGENE ID | 3698 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune ly |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Tuberculosis | 1. CD8(+) T cells were associated with significantly diminished expression of the cytotoxic markers perforin, granzyme B and CD107a both at baseline and following antigen or anti-CD3 stimulation, while NK cells were associated with significantly decreased antigen-stimulated expression of CD107a only. | 25363329 |