Mouse anti-Human Perforin Monoclonal antibody [clone 6C11] for IHC
PRF1 (Perforin 1) is a Protein Coding gene. Diseases associated with PRF1 include hemophagocytic lymphohistiocytosis, familial, 2 and aplastic anemia. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and wide pore channel activity. 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.
Perforin-1 is a protein that in humans is encoded by the PRF1 gene. Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Note=The disease is caused by mutations affecting the gene represented in this entry. Perforin-1 is a protein that in humans is encoded by the PRF1 gene and the Prf1 gene in mice. Perforin is a pore forming cytolytic protein found in the granules of Cytotoxic T lymphocytes (CTLs) and NK cells. Upon degranulation, perforin binds to the target cells plasma membrane, and oligomerises in a Ca2+ dependent manner to form pores on the target cell. The pore formed allows for the passive diffusion of a family of pro-apoptotic proteases, known as the granzymes, into the target cell. The lytic membrane-inserting part of perforin is the MACPF domain. This region shares homology with cholesterol-dependent cytolysins from Gram-positive bacteria.
Allograft rejection; Apoptosis; Autoimmune thyroid disease; Caspase cascade in apoptosis; Downstream signaling in naive CD8+ T cells; Graft-versus-host disease; IL12 signaling mediated by STAT4; IL2 signaling events mediated by.
Trambas, C; Gallo, F; et al. A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin. BLOOD 106:932-937(2005).
Qin, Q; Xie, ZD; et al. Prevalence of Coinfection in Children With Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY 34:E45-E48(2012).
Custom Antibody Labeling
We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody.