BFSP1
Gene Information
- Official Symbol: BFSP1
- Official Name: beaded filament structural protein 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 631
- UniProt: Q12934
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: N/A
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 10774
- Expression level (log2 read counts): 0.12