RecName: Full=Filensin; AltName: Full=Beaded filament structural prote - Protein

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Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix. [Cells. 2023]
Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix.
Jarrin M, Kalligeraki AA, Uwineza A, Cawood CS, Brown AP, Ward EN, Le K, Freitag-Pohl S, Pohl E, Kiss B, et al. Cells. 2023 Jun 7; 12(12). Epub 2023 Jun 7.
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. [Mol Vis. 2013]
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.
Wang H, Zhang T, Wu D, Zhang J. Mol Vis. 2013; 19:2590-5. Epub 2013 Dec 27.
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. [Hum Genet. 2007]
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
Ramachandran RD, Perumalsamy V, Hejtmancik JF. Hum Genet. 2007 May; 121(3-4):475-82. Epub 2007 Jan 16.

RefSeq genomic sequence
See the genomic reference sequence for the BFSP1 gene (NG_012423.2).
RefSeq protein isoforms
See 7 reference sequence protein isoforms for the BFSP1 gene.

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Q12934 [Domain Mapping of Disease Mut...]
Q12934
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Filensin; AltName: Full=Beaded filament structural protein 1; AltN...
RecName: Full=Filensin; AltName: Full=Beaded filament structural protein 1; AltName: Full=Lens fiber cell beaded-filament structural protein CP 115; Short=CP115; AltName: Full=Lens intermediate filament-like heavy; Short=LIFL-H; Contains: RecName: Full=Filensin C-terminal fragment; Contains: RecName: Full=Filensin N-terminal fragment
gi|17372543|sp|Q12934.3|BFSP1_HUMAN

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