Prf1 - perforin 1 (pore forming protein)

Enables calcium ion binding activity and wide pore channel activity. Involved in several processes, including defense response to tumor cell; immune response to tumor cell; and protein homooligomerization. Acts upstream of or within T cell mediated cytotoxicity. Located in cytolytic granule and cytoplasmic vesicle. Is integral component of membrane. Is expressed in ductus deferens; epididymis; skin; and spleen. Used to study familial hemophagocytic lymphohistiocytosis 2; multiple sclerosis; and type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including Crohn's disease; familial hemophagocytic lymphohistiocytosis 2; human immunodeficiency virus infectious disease; multiple sclerosis; and non-Langerhans-cell histiocytosis. Orthologous to human PRF1 (perforin 1). [provided by Alliance of Genome Resources, Apr 2022]