功能： disease:Defects in PRF1 are the cause of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]; also known as HPLH2. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T lymphocytes in lymph nodes, spleen, and other organs is also found.,function:In the presence of calcium, perforin polymerizes into transmembrane tubules and is capable of lysing non-specifically a variety of target cells.,induction:Repressed by contact with target cells.,online information:Perforin entry,online information:PRF1 mutation db,similarity:Belongs to the complement C6/C7/C8/C9 family.,similarity:Contains 1 C2 domain.,similarity:Contains 1 EGF-like domain.,similarity:Contains 1 MACPF domain.,subcellular location:Cytoplasmic granules of cytolytic T-lymphocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytolytic granule . Secreted. Cell membrane ; Multi-pass membrane protein . Endosome lumen . Stored in cytolytic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell (PubMed:20038786). Inserts into the cell membrane of target cells and forms pores (PubMed:20889983). Membrane insertion and pore formation requires a major conformation change (PubMed:20889983). May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes (PubMed:20038786). .
功能： disease:Defects in PRF1 are the cause of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]; also known as HPLH2. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T lymphocytes in lymph nodes, spleen, and other organs is also found.,function:In the presence of calcium, perforin polymerizes into transmembrane tubules and is capable of lysing non-specifically a variety of target cells.,induction:Repressed by contact with target cells.,online information:Perforin entry,online information:PRF1 mutation db,similarity:Belongs to the complement C6/C7/C8/C9 family.,similarity:Contains 1 C2 domain.,similarity:Contains 1 EGF-like domain.,similarity:Contains 1 MACPF domain.,subcellular location:Cytoplasmic granules of cytolytic T-lymphocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytolytic granule . Secreted. Cell membrane ; Multi-pass membrane protein . Endosome lumen . Stored in cytolytic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell (PubMed:20038786). Inserts into the cell membrane of target cells and forms pores (PubMed:20889983). Membrane insertion and pore formation requires a major conformation change (PubMed:20889983). May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes (PubMed:20038786). .
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