This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BFSP1-20-RE | 20 (40 μL) | 200 μL |  |
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| BFSP1-20-OR | 20 (40 μL) | 200 μL |  |
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| BFSP1-20-GO | 20 (40 μL) | 200 μL |  |
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| BFSP1-20-GR | 20 (40 μL) | 200 μL |  |
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| BFSP1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Symbol : BFSP1
Gene Name : Beaded filament structural protein 1
Chromosome : CHR 20: 175,692,19-174,939,04
Locus : 20p12.1
Alt. Genes : HIPK3
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