BFSP2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
BFSP2
Identifiers
Aliases BFSP2, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2
External IDs MGI: 1333828 HomoloGene: 20791 GeneCards: BFSP2
RNA expression pattern
PBB GE BFSP2 207399 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003571

NM_001002896

RefSeq (protein)

NP_003562

NP_001002896

Location (UCSC) Chr 3: 133.4 – 133.48 Mb Chr 9: 103.42 – 103.48 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

BFSP2 is a gene that encodes the protein phakinin in humans.[3]

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.[3]

References[edit]

External links[edit]

Further reading[edit]