Kalpana Kalpana (Editor)

BFSP2

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Species
  
Human

Entrez
  
8419

Human
  
Mouse

Ensembl
  
ENSG00000170819

BFSP2

Aliases
  
BFSP2, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2

External IDs
  
MGI: 1333828 HomoloGene: 20791 GeneCards: BFSP2

BFSP2 is a gene that encodes the protein phakinin in humans.

More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (CP49 or phakinin) and filensin (also known as CP115), 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.

References

BFSP2 Wikipedia