Aliases for BFSP2 Gene
External Ids for BFSP2 Gene
Previous GeneCards Identifiers for BFSP2 Gene
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and 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 have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
GeneCards Summary for BFSP2 Gene
BFSP2 (Beaded Filament Structural Protein 2) is a Protein Coding gene. Diseases associated with BFSP2 include Cataract 12, Multiple Types and Early-Onset Lamellar Cataract. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of eye lens. An important paralog of this gene is KRT10.
UniProtKB/Swiss-Prot Summary for BFSP2 Gene
Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Plays a role in maintenance of retinal lens optical clarity (By similarity).