Aliases for BFSP1 Gene
External Ids for BFSP1 Gene
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]
GeneCards Summary for BFSP1 Gene
BFSP1 (Beaded Filament Structural Protein 1, Filensin) is a Protein Coding gene. Diseases associated with BFSP1 include cataract 33 and autosomal recessive childhood-onset cortical cataract. GO annotations related to this gene include structural constituent of cytoskeleton and structural constituent of eye lens.