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bfsp1

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Official Full Name
beaded filament structural protein 1, filensin
Background
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, CP49 (also known as phakinin) and the protein product of this gene, 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 are the cause of autosomal recessive cortical juvenile-onset cataract. Multiple transcript variants encoding different isoforms have been found for this gene.
Synonyms
BFSP1; beaded filament structural protein 1, filensin; filensin; CP94; CP115; LIFL H; cytoskeletal protein, 115 KD; lens intermediate filament-like heavy; lens fiber cell beaded-filament structural protein CP 115; LIFL-H; CP95; lens fiber cell beaded-filament structural protein CP 95

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