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.
Aliases： P1; PFP; HPLH2
Entrez GeneID： 5551
Swissprot： P14222
WB Predicted band size： 61.3kDa
Host/Isotype： Mouse IgG1
Species Reactivit： Human, Mouse
Immunogen： Purified recombinant fragment of human PRF1 (AA: extra 148-372) expressed in E. Coli.
