PRF1, Official Symbol PRF1provided by HGNC Official Full Name perforin 1provided by HGNC Primary source HGNC:HGNC:9360 See related Ensembl:ENSG00000180644 MIM:170280; AllianceGenome:HGNC:9360 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P1; PFP; HPLH2 Summary 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] Expression Biased expression in spleen (RPKM 24.2), bone marrow (RPKM 10.6) and 12 other tissues See more Orthologs mouse all