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 |
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OMIM ID | | 603212 |
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