BFSP1

Also known as CP115, CP94, CTRCT33, LIFL-H, beaded filament structural protein 1

BFSP1 is a gene that encodes the protein filensin ("beaded filament structural protein 1") in humans.

Gene data

BFSP1

Name: beaded filament structural protein 1
Type: protein-coding
Aliases: CP115, CP94, CTRCT33, LIFL-H

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].

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Gene · Ensembl

beaded filament structural protein 1

Symbol: BFSP1
Biotype: Protein coding
Organism: Homo sapiens
Location: 20:17,493,905-17,569,220
Strand: Reverse (−)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

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exact match: identifiers.org/ncbigene/631
HomoloGene ID: 922
genomic start: 17474550
genomic end: 17549865
cytogenetic location: 20p12.1

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BFSP1 is a gene that encodes the protein filensin ("beaded filament structural protein 1") in humans.

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