Product Description

BFSP1 Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES18060-50, ES18060-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

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. [provided by RefSeq, Jul 2013],

Reactivity: Human, Mouse, Rat

Host: Rabbit

Applications: WB

Clonality: Polyclonal

Immunogen: Synthesized peptide derived from human BFSP1 AA range: 494-544

Isotype: IgG

Target: BFSP1

Specificity: This antibody detects endogenous levels of BFSP1 at Human/Mouse/Rat

Dilution: WB 1：500-2000

Purification: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Expression: Expressed in the cortex and nucleus of the retina lens (at protein level),

Molecular Weight (Da): 73kD

Function: Disease: Defects in BFSP1 are the cause of autosomal recessive cortical juvenile-onset cataract [MIM: 611391]. Cataract is the most frequent cause of visual impairment and blindness worldwide. While congenital cataracts are less frequent than age related cataracts, if not treated promptly they can result in irreversible neural blindness. The frequency of non-syndromic congenital cataract is estimated to be 1-6 cases per 10'000 children with one additional case being diagnosed during childhood. Developmental or juvenile onset cataract is distinguished from congenital cataract by initial clarity of the lens at birth and development of opacities progressively with maturation during childhood or adolescence. Approximately 25% of non-syndromic cataracts are inherited, and they are phenotypically and genetically heterogeneous, with autosomal dominant generally considered to be more common than a

Subcellular Location: Cell membrane, Peripheral membrane protein, Cytoplasmic side Cytoplasm Cytoplasm, cytoskeleton Cytoplasm, cell cortex

Storage and Stability: -20°C/1 year

Gene Name: BFSP1

Protein Name: BFSP1

Mouse Gene ID: 12075

Mouse SwissProt Number: A2AMT1

Rat Gene ID: 25394

Rat SwissProt Number: Q02435

Research Use Only