QuickView for CP94 (gene)

Gene Symbol:

BFSP1 Homo sapiens

Full name:

beaded filament structural protein 1

Synonyms:

CP115, CP94, CTRCT33, LIFL-H, filensin, beaded filament structural protein 1, filensin, cytoskeletal protein, 115 KD, lens fiber cell beaded-filament structural protein CP 115, lens intermediate filament-like heavy

Genomic Location:

Chr 20: 17422550-17459974

Description:

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 recessi...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NFKAPPAB_01 ,  GGATTA_PITX2_Q2 ,  NFKB_Q6

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-330

Cytogenetic Map:

20p12.1

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