BFSP1

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; Lens fiber cell beaded filament structural protein CP 115; Lens intermediate filament like heavy; Beaded filament structural protein 1; Beaded filament structural protein 1 filensin; BFSP1; CP115; CP94; CP95; Cytoskeletal protein, 115 KD; LIFL H; OTTHUMP00000030329; OTTHUMP00000062713; cytoskeletal protein, 115 KD; lens intermediate filament-like heavy; lens fiber cell beaded-filament structural protein CP 115; LIFL-H;