More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, 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.
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Protein Aliases: 49 kDa cytoskeletal protein; beaded filament protein CP49; Beaded filament structural protein 2; beaded filament structural protein 2, phakinin; bfps2, Cytoskeletal protein, 49-kD; CP47; CP49; Lens fiber cell beaded filament protein CP 47; Lens fiber cell beaded filament protein CP 49; Lens intermediate filament-like light; LIFL-L; MGC142078; MGC142080; Phakinin
Gene Aliases: BFSP2; CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN
UniProt ID: (Human) Q13515
Entrez Gene ID: (Human) 8419