{"symbol":"BFSP2","synonyms":["PHAKOSIN","CP47","CP49","CTRCT12","LIFL-L"],"name":"beaded filament structural protein 2, phakinin","description":"More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]","ncbiEntrezGeneId":8419,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/8419","proteins":[{"symbol":"BFSP2_HUMAN","href":"/api/1.0/protein/BFSP2_HUMAN"}],"hgncRootFamilies":[{"name":"Intermediate filaments","href":"/api/1.0/gene_family/Intermediate+filaments"}]}