Synonym(s)
PRF1
DefinitionThis section has been translated automatically.
Cytolytic protein found in granules of cytotoxic T cells (CD8 positive T lymphocyte) and NK cells. Perforin is integrated into the cell membrane of the target cell where it forms a pore-like structure. Through this pore, certain serine proteases (granzymes) enter the target cell and induce apoptosis.
Perforin is encoded by the perforin gene (PRF1 gene).
Mutations of this gene lead to an immunodeficiency characterized by dysfunction of T and NK cells(lymphohistiocytosis, familial hemophagocytic).
Prof. Dr. med. Peter Altmeyer