BFSP2 is a gene that encodes the proteinphakinin ("beaded filament structural protein 2") in humans.[5]
More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament 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.[5]
The two BFSP proteins are put into a "type VI" of intermediate filament (IF) classification. Unlike other IFs that form unbranched links, the two proteins form a network of filaments together with CRYAA.[6][7]
Carter JM, McLean WH, West S, Quinlan RA (April 2000). "Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract". Biochemical and Biophysical Research Communications. 270 (2): 432–436. doi:10.1006/bbrc.2000.2442. PMID10753642.
Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF (November 2004). "Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family". Molecular Vision. 10: 890–900. PMID15570218.
Zhang L, Gao L, Li Z, Qin W, Gao W, Cui X, et al. (December 2006). "Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family". Molecular Vision. 12: 1626–1631. PMID17200662.
Cui X, Gao L, Jin Y, Zhang Y, Bai J, Feng G, et al. (October 2007). "The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family". Molecular Vision. 13: 2023–2029. PMID17982427.
Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.
The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.
