BFSP1 Antibody

Code CSB-PA002680GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
BFSP1
Alternative Names
Beaded filament structural protein 1 antibody; Beaded filament structural protein 1 filensin antibody; BFSP1 antibody; BFSP1_HUMAN antibody; CP115 antibody; CP94 antibody; CP95 antibody; Cytoskeletal protein; 115 KD antibody; Filensin antibody; Lens fiber cell beaded filament structural protein CP 115 antibody; Lens fiber cell beaded-filament structural protein CP 115 antibody; Lens intermediate filament like heavy antibody; Lens intermediate filament-like heavy antibody; LIFL H antibody; LIFL-H antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Human BFSP1
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB,IF
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

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.
Gene References into Functions
  1. The results suggest that the N-terminal domain of CRYAA is required during in vitro complex formation with filensin and phakinin. PMID: 28935373
  2. A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family. PMID: 24379646
  3. The crystallin beta cluster on chromosome 22, GJA3, and BFSP1 play a major role in maintaining lens transparency. PMID: 24319337
  4. This is the first report of a mutation in the BFSP1 gene associated with human inherited cataracts. PMID: 17225135
Involvement in disease
Cataract 33, multiple types (CTRCT33)
Subcellular Location
Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
Protein Families
Intermediate filament family
Tissue Specificity
Expressed in the cortex and nucleus of the retina lens (at protein level).
Database Links

HGNC: 1040

OMIM: 603307

KEGG: hsa:631

STRING: 9606.ENSP00000367104

UniGene: Hs.129702

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7505 Fannin St., Ste 610, Room 7 (CUBIO Innovation Center), Houston, TX 77054, USA
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