{"symbol":"BFSP1","synonyms":["CTRCT33","CP115","CP94","LIFL-H"],"name":"beaded filament structural protein 1, filensin","description":"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]","ncbiEntrezGeneId":631,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/631","proteins":[{"symbol":"BFSP1_HUMAN","href":"/api/1.0/protein/BFSP1_HUMAN"}],"hgncRootFamilies":[{"name":"Intermediate filaments","href":"/api/1.0/gene_family/Intermediate+filaments"}]}