产品名称
BFSP1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/631
Human Swissprot No.
Q12934
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q12934/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/12075
Mouse Swissprot No.
A2AMT1
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/A2AMT1
Rat Gene Link
https://www.uniprot.org/uniprot/25394
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q02435
免疫原
Synthesized peptide derived from human BFSP1 AA range: 494-544
特异性
This antibody detects endogenous levels of BFSP1 at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Expressed in the cortex and nucleus of the retina lens (at protein level).
细胞定位
Cell membrane ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasm . Cytoplasm, cytoskeleton . Cytoplasm, cell cortex .
功能
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 autosomal recessive and X-linked inheritance.,similarity:Belongs to the intermediate filament family.,subcellular location:Membrane- and cytoskeleton-associated.,subunit:Associates with BFSP2.,tissue specificity:Lens.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
