| Gene Symbol | BFSP2 |
| Entrez Gene ID | 8419 |
| Full Name | beaded filament structural protein 2 |
| Synonyms | CP47,CP49,CTRCT12,LIFL-L,PHAKOSIN |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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, Jun 2009]. |
| Disorder MIM: | |
| Disorder Html: | Cataract 12, multiple types, 611597 (3) |
User Manual