Aliases for PRF1 Gene
External Ids for PRF1 Gene
Previous GeneCards Identifiers for PRF1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for PRF1 Gene
PRF1 (Perforin 1) is a Protein Coding gene. Diseases associated with PRF1 include hemophagocytic lymphohistiocytosis, familial, 2 and aplastic anemia. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and wide pore channel activity.
UniProtKB/Swiss-Prot for PRF1 Gene
Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes.