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| Cat.No | ACP18524 | Target Name | BFSP1 |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Expression Range | 1-665 | Protein Length | Full length protein |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q12934 |
|---|
Uniprot Id
Q12934
Target Species
Human
Target Name
BFSP1
Target Full Name
Filensin
Target Function
Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA. Involved in altering the calcium regulation of MIP water permeability.
Target Involvement
Cataract 33, multiple types (CTRCT33)
Target Subcellular Location
Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
Target Protein Families
Intermediate filament family
Target Tissue Specificity
Expressed in the cortex and nucleus of the retina lens (at protein level).
Target Synonyms
Beaded filament structural protein 1; Beaded filament structural protein 1 filensin; BFSP1; BFSP1_HUMAN; CP115; CP94; CP95; Cytoskeletal protein; 115 KD; Filensin; Lens fiber cell beaded filament structural protein CP 115; Lens fiber cell beaded-filament structural protein CP 115; Lens intermediate filament like heavy; Lens intermediate filament-like heavy; LIFL H; LIFL-H
Target Background
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.
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