PRF1 : perforin 1

Description

The PRF1 (perforin 1) is a protein-coding gene located on chromosome 10.

The PRF1 gene provides instructions for producing perforin, a protein found in immune cells called T cells and natural killer (NK) cells. These cells are responsible for destroying other cells. Perforin facilitates cell destruction (cytolysis) and plays a role in regulating the immune system. It is a key component of cytolytic granules within T cells and NK cells. These granules contain cell-killing proteins that are secreted onto the membranes of target cells. Perforin creates a channel through the membrane, allowing these proteins to enter and trigger cell self-destruction. This mechanism also helps regulate the immune system by eliminating unnecessary T cells, preventing the overproduction of immune proteins (cytokines) that cause inflammation and tissue damage.

Perforin-1 is a pore-forming protein that plays a crucial role in granzyme-mediated programmed cell death and defense against virus-infected or cancerous cells. It is involved in killing cells that are recognized as foreign by the immune system, such as in transplant rejection or autoimmune diseases. Perforin inserts into the membrane of target cells in its calcium-bound form, oligomerizes, and forms large pores. This action promotes the lysis and apoptosis of target cells by facilitating the entry of cytotoxic granzymes. It selectively delivers cationic cargo proteins while inefficiently transporting anionic or neural proteins. Perforin pores can release mature caspase-7 into the extracellular environment.

PRF1 is also known as HPLH2, P1, PFP.

Associated Diseases

• Aplastic anemia
• Lymphoma, non-hodgkin, familial
• Hemophagocytic lymphohistiocytosis, familial, 2
• Familial hemophagocytic lymphohistiocytosis
• Idiopathic aplastic anemia