Signal Transduction Antibodies 1

Anti-BFSP2 Antibody (CAB13055)

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SKU:
CAB13055
Product Type:
Antibody
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Signal Transduction

Description

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Antibody Name:Anti-BFSP2 Antibody
Antibody SKU:CAB13055
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 116-415 of human BFSP2 (NP_003562.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Mouse
Positive Samples:Mouse eye
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 116-415 of human BFSP2 (NP_003562.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:VEYM AKVH ALEQ VSQE LETQ LRMH LESK ATRS GNWG ALRA SWAS SCQQ VGEA VLEN ARLM LQTE TIQA GADD FKER YENE QPFR KAAE EEIN SLYK VIDE ANLT KMDL ESQI ESLK EELG SLSR NYEE DVKL LHKQ LAGC ELEQ MDAP IGTG LDDI LETI RIQW ERDV EKNR VEAG ALLQ AKQQ AEVA HMSQ TQEE KLAA ALRV ELHN TSCQ VQSL QAET ESLR ALKR GLEN TLHD AKHW HDME LQNL GAVV GRLE AELR EIRA EAEQ QQQE RAHL LARK CQLQ KDVA SYHA LLDR EESG
Gene ID:8419
Uniprot:Q13515
Cellular Location:Cell membrane, Cytoplasm, Cytoplasmic side, Peripheral membrane protein, cell cortex, cytoskeleton
Calculated MW:45kDa
Observed MW:46kDa
Synonyms:BFSP2, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, phakinin
Background:More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex.
UniProt Protein Function:BFSP2: Involved in stabilization of lens fiber cell cytoskeleton. Defects in BFSP2 are the cause of cataract autosomal dominant multiple types 1 (ADC-MT1). Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. Belongs to the intermediate filament family.
UniProt Protein Details:

Protein type:Cytoskeletal

Chromosomal Location of Human Ortholog: 3q22.1

Cellular Component: cytoplasm; plasma membrane

Molecular Function:protein binding; structural constituent of cytoskeleton

Disease: Cataract 12, Multiple Types

NCBI Summary:More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
UniProt Code:Q13515
NCBI GenInfo Identifier:109731294
NCBI Gene ID:8419
NCBI Accession:BC113518
UniProt Secondary Accession:Q13515,Q14D32, Q9HBW5,
UniProt Related Accession:Q13515
Molecular Weight:45,880 Da
NCBI Full Name:Homo sapiens beaded filament structural protein 2, phakinin, mRNA
NCBI Synonym Full Names:beaded filament structural protein 2
NCBI Official Symbol:BFSP2  
NCBI Official Synonym Symbols:CP47; CP49; LIFL-L; CTRCT12; PHAKOSIN  
NCBI Protein Information:phakinin
UniProt Protein Name:Phakinin
UniProt Synonym Protein Names:49 kDa cytoskeletal protein; Beaded filament structural protein 2; Lens fiber cell beaded filament protein CP 47; CP47; Lens fiber cell beaded filament protein CP 49; CP49; Lens intermediate filament-like light; LIFL-L
Protein Family:Phakinin
UniProt Gene Name:BFSP2  
UniProt Entry Name:BFSP2_HUMAN
Anti-BFSP2 Antibody (CAB13055)Western blot analysis of extracts of mouse eye, using BFSP2 antibody (CAB13055) at 1:3000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 5s.
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