BFSP1

Chr 20p12.1

beaded filament structural protein 1

Aliases:: CP94, CP115, LIFL-H, filensin
MANE:: ENST00000377873.8

OMIM: 603307 ↗NCBI: 631 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

BFSP1 · Q12934

v62025-08-01

Predicted Aligned Error matrix for BFSP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.8/ 100

Low

665 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)10%
Low(50–70)8%
Very low(< 50)49%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

cataract 33
0.72
early-onset non-syndromic cataract
0.40
early-onset nuclear cataract
0.40
placenta praevia
0.29
Developmental cataract
0.26
infectious meningitis
0.25
hereditary disease
0.19
liver disorder
0.19
coloboma
0.15
Total congenital cataract
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Filensin

Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Involved in altering the calcium regulation of MIP water permeability (PubMed:30790544)