Molecular weight (DA)
61kD
Immunogen
The antiserum was produced against synthesized peptide derived from the C-terminal region of human PRF1. AA range:451-500
Specificity
Perforin 1 Polyclonal Antibody detects endogenous levels of Perforin 1
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000, IHC 1:50-200, ELISA 1:10000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008],
Function
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 lys
Other name
Perforin-1 (P1) (Cytolysin) (Lymphocyte pore-forming protein) (PFP)
Fields
>>Apoptosis;>>Natural killer cell mediated cytotoxicity;>>Type I diabetes mellitus;>>Autoimmune thyroid disease;>>Allograft rejection;>>Graft-versus-host disease;>>Viral myocarditis
Human protein sequence Database
P14222
Mouse protein sequence database
P10820
Rat protein sequence database
Cellular localization
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). .
Tissue expression
Liver,Natural killer cell,Spleen,
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