Perforin

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perforin

Perforin (PRF1, chr10q22.1) is a pore-forming protein in CD8+ CTL and NK lytic granules; MACPF domain oligomerizes on target cell membranes → pores → granzyme B entry → caspase-3/9 → apoptosis. PRF1 mutations → familial hemophagocytic lymphohistiocytosis (FHL2).

Entry Metadata

Field	Value
ID	perforin
Name	Perforin
Status	draft
Last reviewed	2026-06-07
Atlas	01-human
Scale	03-molecular

Cross-Atlas Connections

connects-toAplastic Anemia connects-toImmune System connects-toT Cytotoxic Cell connects-toNatural Killer Cell connects-toMelanoma

Sources

Bhatt DL, Bhatt M. Perforin and granzymes: function, dysfunction and human pathology. Nat Rev Immunol. 2010;10(10):673-684. · PubMed 20865011
Voskoboinik I, Whisstock JC, Trapani JA. Perforin and granzymes: function, dysfunction and human pathology. Nat Rev Immunol. 2015;15(6):388-400. · PubMed 25998963
zur Stadt U, Rohr J, Seifert W, et al. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 2009;85(4):482-492. · PubMed 19804849