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BFSP1

Official Full Name
beaded filament structural protein 1
Organism
Homo sapiens
GeneID
631
Background
This gene 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. [provided by RefSeq, Jul 2013]
Synonyms
CP94; CP115; LIFL-H; CTRCT33;

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