Reactivities: | Human |
Presku: | AAP64902 |
Size: | 100ug |
Weight: | 46kDa |
Gene: | 8419 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | CP47; CP49; LIFL-L; MGC142078; MGC142080; PHAKOSIN |