Perforin è un gene codificato dal simbolo PRF1. Comunemente indicato anche come: Perforin-1; P1; Cytolysin; Lymphocyte pore-forming protein; PFP; PRF1. Perforin ha una massa di 61.38kDa, una lunghezza di amminoacidi di 555, ed è implicato in Familial hemophagocytic lymphohistiocytosis 2.
Offriamo 27 anticorpi contro Perforin, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso e IP con campioni derivati da Umano, Topo, Ratto, Bovino, Maiale e Primati.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the complement C6/C7/C8/C9 family.
Modifica post-translazionale
N-glycosylated.
Posizione cellulare
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.
