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Details for Product No. ABIN350113

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

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Synonyms BBS, fb80a05, wu:fb80a05, DKFZp468B105, DKFZp469L0919
»Alternatives N-Term
»Alternatives Human
»Alternatives Rabbit
Clonality Polyclonal
»Alternatives Un-conjugated
»Alternatives Immunohistochemistry (IHC), Western Blotting (WB)
Pubmed 5 references available
Catalog no. ABIN350113
Quantity 100 µL
454.67 $   Plus shipping costs $45.00
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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 immunogen.
Specificity Appears to be specific for BBS2.
Purity whole serum
Alternative Name Bardet Biedl syndrome 2 protein (BBS2)
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.
UniProt Q9BXC9
Application Notes IHC, WB. 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
Storage -20 °C
Nishimura, Searby, Carmi et al.: "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).

Katsanis, Ansley, Badano et al.: "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).

Hoskins, Thorn, Scambler et al.: "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).

Ota, Suzuki, Nishikawa 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).

Hichri, Stoetzel, Laurier et al.: "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).

Alternatives for antigen "Bardet-Biedl Syndrome 2 (BBS2)", type "Antibodies"
Hosts (19), (1)
Reactivities (20), (12), (12), (12), (12)
Applications (10), (10), (3), (3), (1), (1)
Conjugates (1), (1), (1), (1), (1), (1), (1), (1), (1), (1), (1)
Epitopes (2), (1), (1), (1)