Your search for "bfsp1" returned 238 TaqMan® SNP Genotyping Assays
beaded filament structural protein 1
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]
115-KDA, BFSP1, CP115, CP94, CP95, CP97, CTRCT33, LIFL-H
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