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
Pfam DomainsGO Terms
Pfam Domains
Filament
GO Terms
lens fiber cell development
structural constituent of eye lens
lens fiber cell differentiation
lens development in camera-type eye
structural constituent of cytoskeleton
intermediate filament
cell cortex
cell maturation
epithelial cell development
developmental maturation
camera-type eye development
eye development
visual system development
sensory system development
sensory organ development
epithelial cell differentiation
cytoskeleton organization
epithelium development
cell development
tissue development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)