| Entrez gene ID | | 8419 |
| Official gene symbol | | BFSP2 |
| Full name | | beaded filament structural protein 2, phakinin |
| Aliases | | ,CP47,CP49,LIFL-L,MGC142078,MGC142080,PHAKOSIN, |
| Gene summary | | 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] |
| Location | | Chromosome: 3 Locus: 3q21-q25 |
| Gene position | | 133118790 - 133194056 Map Viewer |
| Gene orientation | | plus |
| Gene size | | 75267 bp |
| Gene sequence |
| |
| OMIM ID | | 603212 |
|