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More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Additionally we are shipping Filensin Kits (7) and Filensin Proteins (6) and many more products for this protein.
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A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family.
The crystallin beta cluster on chromosome 22, GJA3 (show GJA3 Antibodies), and BFSP1 play a major role in maintaining lens transparency.
This is the first report of a mutation in the BFSP1 gene associated with human inherited cataracts.
disruption of the Hsf4 (show HSF4 Antibodies) gene leads to cataracts via at least three pathways: down-regulation of gamma-crystallin, particularly gamma S-crystallin (show CRYGS Antibodies); decreased lens beaded filament expression; and loss of post-translational modification of alpha A-crystallin (show CRYAA Antibodies)
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, CP49 (also known as phakinin) and the protein product of this gene, 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 are the cause of autosomal recessive cortical juvenile-onset cataract. Multiple transcript variants encoding different isoforms have been found for this gene.
beaded filament structural protein 1, filensin
, cytoskeletal protein, 115 KD
, lens fiber cell beaded-filament structural protein CP 115
, lens intermediate filament-like heavy
, CP97 115-kDa
, lens fiber cell beaded-filament structural protein CP 94
, lens fiber cell beaded-filament structural protein CP 95
, beaded filament structural protein in lens-CP94