Phakinin (BFSP2) Antibody – Guinea Pig Polyclonal

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. [provided by RefSeq, Jun 2009]

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

Chromosomal Location of Human Ortholog: 3q22.1

Cellular Component: cytoplasm; plasma membrane; intermediate filament

Molecular Function: structural constituent of cytoskeleton; structural constituent of eye lens

Biological Process: visual perception; cell maturation; response to stimulus; intermediate filament cytoskeleton organization and biogenesis

Disease: Cataract 12, Multiple Types