Phakinin is a protein that in humans is encoded by the BFSP2 gene. More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (CP49 or phakinin) and filensin (also known as CP115), are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex.
BFSP2; beaded filament structural protein 2, phakinin; CP47; CP49; LIFL-L; Phakinin; 49 kDa cytoskeletal protein; beaded filament protein CP49; bfps2, Cytoskeletal protein, 49-kD; lens intermediate filament-like light; lens fiber cell beaded filament protein CP 47; lens fiber cell beaded filament protein CP 49; MGC142078; MGC142080; OTTHUMP00000216298; PHAKOSIN; CP47, CP49, LIFL-L, MGC142078, MGC142080, PHAKOSIN,BFSP2; CP49INS; cytoskeletal protein CP 49; zgc:103750; DKEYP-73D8.2