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 Hemophagocytic Lymphohistiocytosis. Among its related pathways are DREAM Repression and Dynorphin Expression and Immune response_IL-12 signaling pathway. 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.