BBS2 antibody (Bardet-Biedl Syndrome 2) (N-Term)

Details for Product anti-BBS2 Antibody No. ABIN350113, Supplier: Log in to see
Antigen
  • fb80a05
  • wu:fb80a05
  • DKFZp468B105
  • DKFZp469L0919
  • BBS
  • 2410125H22Rik
  • AI447581
  • Bardet-Biedl syndrome 2
  • bardet-biedl syndrome 2
  • Bardet-Biedl syndrome 2 (human)
  • bbs2
  • BBS2
  • Bbs2
Alternatives
anti-Human BBS2 antibody for Western Blotting
Epitope
N-Term
4
3
2
1
1
1
Reactivity
Human, Rat (Rattus), Mouse (Murine)
33
20
19
4
4
4
4
4
3
2
1
1
Host
Rabbit
30
3
Clonality
Polyclonal
Conjugate
This BBS2 antibody is un-conjugated
1
1
1
1
1
1
1
1
1
1
1
1
1
1
Application
Immunohistochemistry (IHC), Western Blotting (WB)
19
13
4
3
2
1
Options
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Immunogen A synthetic peptide from the n-terminal region of human Bardet Biedl syndrome 2 protein (BBS2) conjugated to an immunogenic carrier protein was used as the antigen.
Specificity Specific for BBS2.
Purification Whole serum
Alternative Name BBS2 (BBS2 Antibody Abstract)
Background Function: 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 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. Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2 (BBS2). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder 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. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.
Subcellular location: Cell projection › cilium membrane. Cytoplasm. Note: Localizes to nonmembranous centriolar satellites in the cytoplasm.
Tissue specificity: Widely expressed. Also known as: BBS2.
Research Area Neurology
Pathways Hedgehog Signaling
Application Notes A dilution of 1 : 300 to 1 : 2000 is recommended.
The optimal dilution should be determined by the end user.
Not yet tested in other applications.
Restrictions For Research Use only
Format Lyophilized
Reconstitution Reconstitute in 100 µL of sterile water. Centrifuge to remove any insoluble material.
Handling Advice Avoid freeze and thaw cycles.
Storage 4 °C/-20 °C
Storage Comment Maintain the lyophilised/reconstituted antibodies frozen at -20°C for long term storage and refrigerated at 2-8°C for a shorter term. When reconstituting, glycerol (1:1) may be added for an additional stability. Avoid freeze and thaw cycles.
Expiry Date 12 months
Background publications Hichri, Stoetzel, Laurier, Caron, Sigaudy, Sarda, Hamel, Martin-Coignard, Gilles, Leheup, Holder, Kaplan, Bitoun, Lacombe, Verloes, Bonneau, Perrin-Schmitt, Brandt, Besancon, Mandel, Cossuee, Dollfus: "Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort." in: European journal of human genetics : EJHG, Vol. 13, Issue 5, pp. 607-16, 2005 (PubMed).

Ota, Suzuki, Nishikawa, Otsuki, Sugiyama, Irie, Wakamatsu, Hayashi, Sato, Nagai, Kimura, Makita, Sekine, Obayashi, Nishi, Shibahara, Tanaka, Ishii, Yamamoto, Saito, Kawai, Isono, Nakamura, Nagahari et al.: "Complete sequencing and characterization of 21,243 full-length human cDNAs. ..." in: Nature genetics, Vol. 36, Issue 1, pp. 40-5, 2003 (PubMed).

Hoskins, Thorn, Scambler, Beales: "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique." in: Human mutation, Vol. 22, Issue 2, pp. 151-7, 2003 (PubMed).

Katsanis, Ansley, Badano, Eichers, Lewis, Hoskins, Scambler, Davidson, Beales, Lupski: "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder." in: Science (New York, N.Y.), Vol. 293, Issue 5538, pp. 2256-9, 2001 (PubMed).

Nishimura, Searby, Carmi, Elbedour, Van Maldergem, Fulton, Lam, Powell, Swiderski, Bugge, Haider, Kwitek-Black, Ying, Duhl, Gorman, Heon, Iannaccone, Bonneau, Biesecker, Jacobson, Stone, Sheffield: "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)." in: Human molecular genetics, Vol. 10, Issue 8, pp. 865-74, 2001 (PubMed).