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BFSP1 / Filensin
beaded filament structural protein 1, filensin
BFSP1 / Filensin encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants.
| Gene Name: | beaded filament structural protein 1, filensin |
| Synonyms: | BFSP1, Cytoskeletal protein, 115 KD, CP115, CP94, Filensin, LIFL-H |
| Target Sequences: | NM_001195 NP_001186.1 Q12934 |
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