BFSP2

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.

Full Name

Beaded Filament Structural Protein 2

Function

Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373).
Plays a role in maintenance of retinal lens optical clarity (By similarity).

Biological Process

Cell maturation Source: Ensembl
Intermediate filament organization Source: UniProtKB
Lens fiber cell development Source: Ensembl
Response to stimulus Source: UniProtKB-KW
Visual perception Source: UniProtKB-KW

Cellular Location

Cytoskeleton; Cytoplasm; Cell membrane; Cell cortex. Expressed primarily at the plasma membrane in peripheral lens fiber cells, however also localizes to the cytoplasm in mature lens fiber cells.

Involvement in disease

Cataract 12, multiple types (CTRCT12): 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.