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Phakinin

Involved in stabilization of lens fiber cell cytoskeleton.

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Phakinin

Also known as Phakinin (49 kDa cytoskeletal protein) (Beaded filament structural protein 2) (Lens fiber cell beaded filament protein CP 47) (CP47) (Lens fiber cell beaded filament protein CP 49) (CP49).
BFSP2: Involved in stabilization of lens fiber cell cytoskeleton. Defects in BFSP2 are the cause of cataract autosomal dominant multiple types 1 (ADC-MT1). Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. Belongs to the intermediate filament family.

Protein type: Cytoskeletal

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