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Official Full Name
perforin 1 (pore forming protein)
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]
PRF1; perforin 1 (pore forming protein); P1; PFP; FLH2; PFN1; HPLH2; perforin-1; cytolysin; lymphocyte pore forming protein; lymphocyte pore-forming protein; Perforin; perforin 1 (preforming protein); MGC65093; P1, PFP, FLH2, PFN1, HPLH2

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