Humpath.com - Human pathology

Home > A. Molecular pathology > BFSP2

BFSP2

Sunday 20 March 2005

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

  • phakinin (BFSP2)
  • filensin (BFSP1) (MIM.603307)

- cataracts