PRF1 (Perforin 1) is a Protein Coding gene. Diseases associated with PRF1 include Hemophagocytic Lymphohistiocytosis, Familial, 2 and Lymphoma, Non-Hodgkin. Among its related pathways are Allograft rejection and Apoptosis and survival Caspase cascade. GO annotations related to this gene include calcium ion binding and wide pore channel activity. The protein encoded by this gene 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 this gene 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.