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BFSP2

The beaded filament is a cytoskeletal structure which is abundant in the fiber cells of the ocular lens.

Phakinin (BFSP2) and filensin (BFSP1) (MIM.603307) are major components of the beaded filament.

Pathology

- germline mutations of BFSP2 in

  • autosomal dominant congenital cataract (MIM.604219)
  • autosomal dominant juvenile-onset cataract (MIM.604219)

See also

- beaded filament

- cataracts

Keywords