BFSP1 gene

beaded filament structural protein 1

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

From NCBI Gene:

This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

From NCBI Gene:

  • Cataract, cortical, juvenile-onset

From UniProt:

Cataract 33 (CTRCT33): 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. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus. [MIM:611391]

Cytogenetic Location: 20p12.1, which is the short (p) arm of chromosome 20 at position 12.1

Molecular Location: base pairs 17,493,905 to 17,569,220 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20p12.1, which is the short (p) arm of chromosome 20 at position 12.1
  • CP94
  • CP115
  • CTRCT33
  • LIFL-H