Aliases for BFSP1 Gene
External Ids for BFSP1 Gene
Previous GeneCards Identifiers 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) is a Protein Coding gene. Diseases associated with BFSP1 include Cataract 33, Multiple Types and Cataract 33. GO annotations related to this gene include structural molecule activity and structural constituent of eye lens.