Aliases for PRF1 Gene
External Ids for PRF1 Gene
Previous GeneCards Identifiers for PRF1 Gene
This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
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 Circadian rythm related genes and IL2 signaling events mediated by PI3K. Gene Ontology (GO) annotations related to this gene include calcium ion binding and wide pore channel activity. An important paralog of this gene is CSMD2.
UniProtKB/Swiss-Prot Summary 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.