Description
Product Characteristics: Perforin is a 70 kDa cytolytic protein with structural and functional similarities to complement component 9 (C9). It is stored in cytoplasmic granules of cytotoxic T cells and NK cells and after its release it forms transmembrane pores in the target cells to kill it. As perforin is a key effector molecule for cell-mediated cytolysis, defects of its gene can cause severe disorders.
Target Information: 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]