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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BFSP2-20-RE | 20 (40 μL) | 200 μL |  |
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| BFSP2-20-OR | 20 (40 μL) | 200 μL |  |
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| BFSP2-20-GO | 20 (40 μL) | 200 μL |  |
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| BFSP2-20-GR | 20 (40 μL) | 200 μL |  |
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| BFSP2-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : BFSP2
Gene Name : Beaded filament structural protein 2
Chromosome : CHR 3: 133,397,881-133,475,211
Locus : 3q22.1
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