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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PRF1-20-RE | 20 (40 μL) | 200 μL |  |
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| PRF1-20-OR | 20 (40 μL) | 200 μL |  |
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| PRF1-20-GO | 20 (40 μL) | 200 μL |  |
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| PRF1-20-GR | 20 (40 μL) | 200 μL |  |
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| PRF1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PRF1
Gene Name : Perforin 1
Chromosome : CHR 10: 706,027,74-705,973,47
Locus : 10q22.1
Alt. Genes : PDZK1IP1
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