Automated description from the Alliance of Genome Resources (Release 3.1.1)
Exhibits calcium ion binding activity and wide pore channel activity. Involved in several processes, including T cell mediated cytotoxicity; defense response to tumor cell; and protein homooligomerization. Localizes to cytolytic granule; cytoplasmic vesicle; and integral component of membrane. 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).