Aliases for BFSP2 Gene
External Ids 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, Phakinin) is a Protein Coding gene. Diseases associated with BFSP2 include cataract 12, multiple types and partial congenital cataract. GO annotations related to this gene include structural constituent of cytoskeleton and structural constituent of eye lens. An important paralog of this gene is KRT23.
UniProtKB/Swiss-Prot for BFSP2 Gene
Involved in stabilization of lens fiber cell cytoskeleton.