بی‌اف‌اس‌پی۲

Also known as CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2

BFSP2 is a gene that encodes the protein phakinin ("beaded filament structural protein 2") in humans.

Gene data

BFSP2

Name: beaded filament structural protein 2
Type: protein-coding
Position: 133,400,056–133,475,222 (+)
Aliases: CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN
Ensembl: ENSG00000170819
RefSeq RNA: NM_003571.4, XM_017007315.2, XM_054348085.1
RefSeq protein: NP_003562.1, XP_016862804.1, XP_054204060.1

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].