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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.
Gene Name: | beaded filament structural protein 2, phakinin |
Synonyms: | BFSP2, 49 kDa cytoskeletal protein, Beaded filament protein CP49, CP47, CP49, LIFL-L, Phakinin, PHAKOSIN |
Target Sequences: | NM_003571 NP_003562.1 Q13515 |
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