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.
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Protein Aliases: Beaded filament structural protein 1; beaded filament structural protein 1, filensin; CP115; cytoskeletal protein, 115 KD; Filensin; Filensin C-terminal fragment; Filensin N-terminal fragment; Lens fiber cell beaded-filament structural protein CP 115; Lens intermediate filament-like heavy; LIFL-H; RP4-531H16.2
Gene Aliases: BFSP1; CP115; CP94; CTRCT33; LIFL-H
UniProt ID: (Human) Q12934
Entrez Gene ID: (Human) 631