BFSP1, Official Symbol BFSP1provided by HGNC Official Full Name beaded filament structural protein 1provided by HGNC Primary source HGNC:HGNC:1040 See related Ensembl:ENSG00000125864 MIM:603307; AllianceGenome:HGNC:1040 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CP94; CP115; LIFL-H; CTRCT33 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] Expression Broad expression in testis (RPKM 2.0), thyroid (RPKM 0.9) and 20 other tissues See more Orthologs mouse all