Analysis of PRF1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2076-LGZ)

Introduction

Official Full Name: perforin 1
Also known as: P1; PFP; HPLH2
This gene encodes a protein whose structure is similar to complement component C9 and is important for immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs at the plasma membrane of the target cell or at the endosomal membrane within the target cell is debated. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), plastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2 ), a rare and lethal autosomal recessive disorder of early childhood.