- Human pathology

Home > A. Molecular pathology > BFSP1


MIM.603307 20p12.1-p11.23

Sunday 20 March 2005

More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells.

As occurs in mammalian red blood cells, lens fiber cell differentiation includes the loss of all membranous cytoplasmic organelles.

Unlike red blood cells, however, the lens fiber cell is not destroyed after a limited life span but survives for the life of the organism. The extreme changes in cellular architecture that occur during differentiation require extensive remodeling of the cell cytoskeleton.

Although actin-based thin filaments, microtubules, and vimentin-based intermediate filaments (IFs) are found in the newly differentiated fiber cells, they disappear shortly after differentiation.

Two lens-specific IF-like proteins, CP49 (MIM.603212) and filensin (BFSP1), are expressed only after differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF).

- filensin mutation database (no mutations described April 2005)