Beaded filament structural protein 2 (BFSP2)

Beaded filament structural protein 2 (BFSP2; also known as phakinin or CP49) is a lens-specific type VI intermediate filament protein critical for the development, transparency, and mechanical stability of the vertebrate ocular lens[1][2][3][4]. BFSP2 forms the beaded filament cytoskeleton in lens fiber cells by coassembling with filensin (BFSP1), a process essential for the correct packing and organization of differentiating fiber cells and for minimizing light scatter within the lens[2][3][6]. BFSP2 disruption, due to inherited mutations, results in aberrant fiber cell structure, compromised refractive architecture, increased light scatter, and cataract formation, commonly in pediatric or early adulthood onset[1][2][4]. The protein does not function as a receptor, enzyme, transporter, or druggable target but is necessary for cytoskeletal integrity in lens tissues. Currently, no drugs are known to target BFSP2 directly; its main clinical relevance is as a structural protein whose mutations provide a genetic risk biomarker for opacity-related lens diseases[1][3][4].

Other names

CP49PhakininCP47LIFL-LPHAKOSINCTRCT1249 kDa cytoskeletal proteinlens fiber cell beaded filament protein CP 47lens fiber cell beaded filament protein CP 49lens intermediate filament-like lightbeaded filament protein CP49beaded filament structural protein 2