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Mouse Anti-BBS7 Recombinant Antibody (CBYY-0258) (CBMAB-0259-YY)


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Published Data
Mouse Anti-BBS7 Recombinant Antibody (CBYY-0258) (CBMAB-0259-YY) in IF
RPE-1 cells transfected with control (siNSp), NPHP5 (siNPHP5) or Cep290 (siCep290) siRNAs and induced to quiescence were stained with the indicated combinations of antibodies. Detyr-tub, detyrosinated tubulin; GT335, polyglutamylated tubulin. ...View More
Barbelanne, M., Hossain, D., Chan, D. P., Peränen, J., & Tsang, W. Y. (2015). Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. Human molecular genetics, 24(8), 2185-2200.
Mouse Anti-BBS7 Recombinant Antibody (CBYY-0258) (CBMAB-0259-YY) in IP
Flag-NPHP5 and the indicated GFP proteins were co-expressed in HEK293 cells, and lysates were immunoprecipitated with an anti-Flag antibody. The resulting immunoprecipitates were western blotted with anti-Flag or anti-GFP antibodies. IN, input. ...View More
Barbelanne, M., Hossain, D., Chan, D. P., Peränen, J., & Tsang, W. Y. (2015). Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. Human molecular genetics, 24(8), 2185-2200.

Summary

Host Animal
Mouse
Specificity
Mouse, Rat, Human, Dog, Cattle, Pig
Clone
CBYY-0258
Antibody Isotype
IgG1, λ
Application
WB, IP, IF, ELISA

Basic Information

Immunogen
Amino acids 483-521 within an internal region of BBS7 of human origin.
Host Species
Mouse
Specificity
Mouse, Rat, Human, Dog, Cattle, Pig
Antibody Isotype
IgG1, λ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
ApplicationNote
WB1:100-1:1,000
IP1-2 µg per 100-500 µg of total protein (1 ml of cell lysate)
IF(ICC)1:50-1:500
ELISA1:100-1:1,000

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, 0.1% gelatin
Preservative
< 0.1% sodium azide
Concentration
0.2 mg/ml
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Bardet-Biedl syndrome 7
Introduction
This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoMouse include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforMouse have been identified for this gene.[provided by RefSeq, Oct 2014]
Entrez Gene ID
Human55212
Mouse71492
Rat361930
UniProt ID
HumanQ8IWZ6
MouseQ8K2G4
RatQ66H90
Alternative Names
Bardet-Biedl Syndrome 7; BBS2L1; Bardet-Biedl Syndrome 7 Protein; BBS2-Like Protein 1; BBS2-Like 1;
Function
The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.
Biological Process
Brain development Source: Ensembl
Cilium assembly Source: BHF-UCL
Determination of left/right symmetry Source: BHF-UCL
Digestive tract morphogenesis Source: BHF-UCL
Eye development Source: Ensembl
Fat cell differentiation Source: BHF-UCL
Heart looping Source: BHF-UCL
Intracellular transport Source: GO_Central
Limb development Source: Ensembl
Melanosome transport Source: BHF-UCL
Non-motile cilium assembly Source: InterPro
Pigment granule aggregation in cell center Source: BHF-UCL
Positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: MGI
Primary palate development Source: Ensembl
Protein localization Source: GO_Central
Protein transport Source: UniProtKB-KW
Regulation of transcription by RNA polymerase II Source: MGI
Smoothened signaling pathway Source: Ensembl
Visual perception Source: UniProtKB-KW
Cellular Location
Cytoplasm; Cilium membrane; Centriolar satellite; Cilium basal body
Involvement in disease
Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome.
Bardet-Biedl syndrome 7 (BBS7): A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
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For research use only. Not intended for any clinical use.

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