Bfsp2 - beaded filament structural protein 2, phakinin

A structural constituent of eye lens. Involved in intermediate filament organization. Acts upstream of or within cell maturation; intermediate filament cytoskeleton organization; and lens fiber cell development. Located in cytoplasm and intermediate filament. Is expressed in lens; olfactory epithelium; and vomeronasal organ. Human ortholog(s) of this gene implicated in cataract and cataract 12 multiple types. Orthologous to human BFSP2 (beaded filament structural protein 2). [provided by Alliance of Genome Resources, Apr 2022]