Perforin [CB5.4] (FITC)

CB5. 4

Recombinant fragment corresponding to amino acids 98 - 534 of Mouse Perforin.

Mouse T cell clone B6. 1.

Cytoplasmic granules

1 mg/ml Storage

ICC: Use at a concentration of 5 µ g/ml. IHC-P: Use at an assay dependent dilution. IHC-Fr: Use at an assay dependent dilution. IP: Use at an assay dependent dilution. WB: Use at a concentration of 1 µ g/ml. Detects a band of approximately 66 kDa (predicted

Cytoplasmic granules Perforin is one of the major cytolytic proteins of cytolytic granules. One of the main pathways of lymphocyte mediated cytolysis entails the secretion onto target membranes of cytolytic granules contained in cytolytic effector lymphocytes of T-cell or NK-cell type. Perforin is a cytolytic mediator and is stored in and released by cytoplasmic granules. Perforin (PRF) is involved in the killing mediated by cytotoxic lymphocytes which represents an important mechanism in the immune defense against tumors and virus infections. Human PRF is a 555 amino acid protein with a 21 amino acid signal peptide. It has a molecular weight of 70 to 75 kD. PRF is a pore forming protein with a mechanism of transmembrane channel formation similar to C9 and homology between perforin and C9 has been demonstrated at their respective functionally conserved regions. Studies show that perforin is expressed only in killer cell lines and not in helper T lymphocytes or other tumor cells tested.

Cytoplasmic granule membrane; Multi-pass membrane protein. Note=Cytoplasmic granules of cytolytic T-lymphocytes.

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.

Contains 1 C2 domain.

Contains 1 MACPF domain.