Perforin est un gène codé par le symbole PRF1. Communément appelé aussi: Perforin-1; P1; Cytolysin; Lymphocyte pore-forming protein; PFP; PRF1. Perforin a une masse de 61.38kDa, une longueur d'acide aminé de 555, et est impliqué dans Familial hemophagocytic lymphohistiocytosis 2.
Nous proposons 27 des anticorps contre Perforin, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, Cytométrie en Flux et IP avec des échantillons dérivés de Humain, Souris, Rat, Bovin, Porcin et Primates.
Informations sur les Gènes et les Protéines
Résumé UniProt
Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes.
Résumé Entrez
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.
Implication dans la maladie
Familial hemophagocytic lymphohistiocytosis 2: 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.
Similitudes de séquence
Belongs to the complement C6/C7/C8/C9 family.
Modification post-traductionnelle
N-glycosylated.
Localisation cellulaire
Cytoplasmic granule lumen. Secreted. Cell membrane. Endosome lumen.
Stored in cytoplasmic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell. Inserts into the cell membrane of target cells and forms pores. Membrane insertion and pore formation requires a major conformation change. May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes.
