Filensin; beaded filament structural protein 1; lens fiber cell beaded-filament structural protein CP 115; CP115; lens intermediate filament-like heavy; LIFL-H (BFSP1)

Function

• associates with BFSP2

Structure

belongs to the intermediate filament family

Compartment

• membrane, cytoplasm, cytoskeleton
• membrane- & cytoskeleton-associated

Alternative splicing

named isoforms=2

Expression

ocular lens

Pathology

• defects in BFSP1 are the cause of juvenile-onset autosomal recessive congenital cataracts

More general terms

• cytoskeletal protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=631
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:631
• OMIM: https://mirror.omim.org/entry/603307
• OMIM: https://mirror.omim.org/entry/611391
• UniProt: http://www.uniprot.org/uniprot/Q12934.html