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More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Zusätzlich bieten wir Ihnen Filensin Antikörper (62) und Filensin Proteine (6) und viele weitere Produktgruppen zu diesem Protein an.
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The results suggest that the N-terminal domain of CRYAA (zeige CRYAA ELISA Kits) is required during in vitro complex formation with filensin and phakinin (zeige BFSP2 ELISA Kits).
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 (zeige GJA3 ELISA Kits), 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 (zeige HSF4 ELISA Kits) gene leads to cataracts via at least three pathways: down-regulation of gamma-crystallin, particularly gamma S-crystallin (zeige CRYGS ELISA Kits); decreased lens beaded filament expression; and loss of post-translational modification of alpha A-crystallin (zeige CRYAA ELISA Kits)
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
, lens fiber cell beaded-filament structural protein CP 95
, 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
, beaded filament structural protein in lens-CP94