Recombinant Human Phakinin (BFSP2)

Uniprot Id

Q13515

Target Species

Human

Target Name

BFSP2

Target Full Name

Phakinin

Target Function

Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA. Plays a role in maintenance of retinal lens optical clarity.

Target Involvement

Cataract 12, multiple types (CTRCT12)

Target Subcellular Location

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.

Target Protein Families

Intermediate filament family

Target Tissue Specificity

Lens.

Target Synonyms

BFSP2Phakinin; 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; Lens intermediate filament-like light; LIFL-L

Target Background

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.