phakinin (beaded filament structural protein 2, lens fiber cell beaded filament protein CP 49, CP49, 49 kD cytoskeletal protein, CP 47, CP47, lens intermediate filament-like light, LIFL-L, BFSP2)

Function

• involved in stabilization of lens fiber cell cytoskeleton
• associates with BFSP1

Structure

• belongs to the intermediate filament family

Compartment

membrane, cytoplasm, cytoskeleton

Expression

expressed in lens

Pathology

• defects in BFSP2 are a cause of autosomal dominant cataracts

More general terms

• cytoskeletal protein

Database

• OMIM: https://mirror.omim.org/entry/603212
• OMIM: https://mirror.omim.org/entry/604219
• UniProt: http://www.uniprot.org/uniprot/Q13515.html