Rabbit anti-Human BFSP1 Polyclonal Antibody

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.