Perforin

Perforin is a protein that is encoded by the PRF1 gene in humans. It is a pore-forming cytolytic protein found in the granules of Cytotoxic T cells and Natural Killer (NK) cells. Perforin is one of the major effector molecules used by cytotoxic T cells to mediate targeted cell lysis.

Structure

Perforin is a 555 amino acid protein that shares structural similarities with complement component 6 (C6), C7, C8 alpha, C8 beta, and C9. It is a member of the Membrane Attack Complex/Perforin (MACPF) family of proteins. The MACPF family is characterized by a unique structural fold that is responsible for the assembly of giant transmembrane pores.

Function

Perforin plays a crucial role in the immune system's ability to destroy target cells. It is involved in the killing function of cytotoxic T cells and NK cells. Perforin forms pores in the membrane of target cells, allowing for the entry of granzymes, a family of serine proteases that induce apoptosis in the target cell.

Clinical significance

Mutations in the PRF1 gene are associated with Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. FHL2 is characterized by fever, hepatosplenomegaly, and cytopenia. Patients with FHL2 often present with neurologic symptoms as well.

See also

• Cytotoxic T cell
• Natural Killer cell
• Granzyme
• Familial Hemophagocytic Lymphohistiocytosis

External links

• PRF1 gene on NCBI
• Perforin on UniProt

Perforin Resources
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