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More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Zusätzlich bieten wir Ihnen BFSP2 Proteine (4) und BFSP2 Kits (3) und viele weitere Produktgruppen zu diesem Protein an.
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We report a novel mutation (p.G112E) in the BFSP2 gene, underscoring the physiological importance of the beaded filament protein and supporting its role in human cataract formation.
Data show that BFSP2 and PITX3 (zeige PITX3 Antikörper), hitherto known to cause eye defects only in a dominant fashion, can also present recessively.
The Y-sutural opacity in the lens might be the typical and earliest sign for cataract caused by the BFSP2 mutation. In addition, a myopia susceptibility locus in this region, which might also be associated with the mutation in BFSP2.
Progressive isolated sutural cataract associated with deletion mutation of BFSP2 gene in Chinese pedigree. Physiological importance of beaded filament protein. Role of BFSP2 in human cataract formation.
Progressive phenotype has provided more evidence for the heterogeneity of congenital cataract caused by BFSP2 mutations and for the important role BFSP2 plays in cataract formation.
This is the first reported case of a congenital lamellar cataract phenotype associated with the mutation of Arg339His (P.R339H) in BFSP2.
CP49 is involved in a functional synergy critical for regulating lens fiber cell geometry, transparency, and mechanical stiffness.
disruption of the Hsf4 (zeige HSF4 Antikörper) gene leads to cataracts via at least three pathways: down-regulation of gamma-crystallin, particularly gamma S-crystallin (zeige CRYGS Antikörper); decreased lens beaded filament expression; and loss of post-translational modification of alpha A-crystallin (zeige CRYAA Antikörper)
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.
beaded filament structural protein 2, phakinin
, cytoskeletal protein CP 49
, 49 kDa cytoskeletal protein
, beaded filament protein CP49
, bfps2, Cytoskeletal protein, 49-kD
, lens fiber cell beaded filament protein CP 47
, lens fiber cell beaded filament protein CP 49
, lens intermediate filament-like light
, CP 47