基因名:
PRF1
产品别名:
HPLH2; P1; PFP; PRF1; perforin 1; perforin 1; perforin-1; cytolysin; lymphocyte pore-forming protein; perforin 1 (pore forming protein); 穿孔素; 穿孔素1(PRF1);
背景信息:
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].