Anti-BFSP1

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], Protein function: Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Involved in altering the calcium regulation of MIP water permeability (PubMed:30790544). [The UniProt Consortium] Recommended dilutions: WB 1:500-2000. Cellular localization: Cell membrane , Peripheral membrane protein , Cytoplasmic side . Cytoplasm . Cytoplasm, cytoskeleton . Cytoplasm, cell cortex .