The protein encoded by PRF1(perforin 1) has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in PRF1 cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein.蛋白别名为:Perforin-1 (P1) (Cytolysin) (Lymphocyte pore-forming protein) (PFP);基因ID为:5551;蛋白质ID:P14222