BFSP2

8419107993ENSG00000170819ENSMUSG00000032556Q13515Q6NVD9NM_003571NM_001002896NM_001364514NP_003562NP_001002896NP_001351443BFSP2 is a gene that encodes the protein phakinin in humans. BFSP2 is a gene that encodes the protein phakinin in humans. More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (CP49 or phakinin) and filensin (also known as CP115), 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.