BFSP2 gene

beaded filament structural protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in stabilization of lens fiber cell cytoskeleton.

From NCBI Gene:

  • Cataract, autosomal dominant, multiple types 1

From UniProt:

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. [MIM:611597]

Cytogenetic Location: 3q22.1, which is the long (q) arm of chromosome 3 at position 22.1

Molecular Location: base pairs 133,397,882 to 133,475,212 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q22.1, which is the long (q) arm of chromosome 3 at position 22.1
  • CP47
  • CP49
  • CTRCT12
  • LIFL-L
  • PHAKOSIN