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phakinin (beaded filament structural protein 2, lens fiber cell beaded filament protein CP 49, CP49, 49 kD cytoskeletal protein, CP 47, CP47, lens intermediate filament-like light, LIFL-L, BFSP2)
Function:
1) involved in stabilization of lens fiber cell cytoskeleton
2) associates with BFSP1
Structure:
- belongs to the intermediate filament family
Compartment: membrane, cytoplasm, cytoskeleton
Expression: expressed in lens
Pathology:
- defects in BFSP2 are a cause of autosomal dominant cataracts
General
cytoskeletal protein
Properties
SIZE: MW = 46 kD
entity length = 415 aa
COMPARTMENT: cytoplasm
MOTIF: Head {1-114}
Rod {115-395}
MOTIF: coiled coil {115-144}
coiled coil {199-253}
coiled coil {309-400}
Tail {396-415}
Database Correlations
OMIM correlations
MORBIDMAP 603212
UniProt Q13515
Pfam PF00038
References
- UniProt :accession Q13515
- Human Intermediate Filament Mutation Database
http://www.interfil.org