BFSP2

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].

Gene Ontology

Biological process

intermediate filament organization

Article

3 sections

Contents

References
External links
Further reading

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

More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament 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.