Automated description from the Alliance of Genome Resources (Release 7.1.0)
Enables calcium ion binding activity and wide pore channel activity. Involved in several processes, including defense response to tumor cell; granzyme-mediated programmed cell death signaling pathway; and protein transport. Located in cytolytic granule and cytoplasmic vesicle. Is active in immunological synapse. 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).