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

Antigen: Bardet-Biedl Syndrome 2 (BBS2)

Synonyms: BBS, MGC20703, AI447581, 2410125H22Rik, fb80a05, wu:fb80a05, MGC134372, DKFZp468B105, DKFZp469L0919

Binding Site: N-Term

Clonality: Polyclonal

Host: Rabbit

Reactivity: Please enquire

Conjugate: Un-conjugated

Application: Immunohistochemistry (IHC), Western Blotting (WB)

Catalog no.: ABIN350113

Additional Information

Alternative name: Bardet Biedl syndrome 2 protein (BBS2)

UniProt: Q9BXC9

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.

Format: Lyophilized

Description: 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.

Specificity: Appears to be specific for BBS2.

Application Details

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.

Purity: whole serum

Storage: 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.

Restrictions: For Research Use only

Publications

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).