Bardet-Biedl Syndrome 4 (BBS4) (N-Term) antibody

Antigen: Bardet-Biedl Syndrome 4 (BBS4)

Synonyms: MGC139427, MGC152964, zgc:152964

Binding Site: N-Term

Clonality: Polyclonal

Host: Rabbit

Reactivity: Please enquire

Conjugate: Un-conjugated

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

Catalog no.: ABIN350114

Additional Information

Alternative name: Bardet-Biedl syndrome 4 protein (BBS4)

UniProt: Q96RK4

Immunogen: A synthetic peptide from the n-terminal region of human Bardet Biedl syndrome 4 protein (BBS4) conjugated to an immunogenic carrier protein was used as the immunogen.

Format: Lyophilized

Description: FUNCTION: May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. 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. SUBCELLULAR LOCATION: Centrosome. Cytoplasm › cytoskeleton. Cell projection › cilium membrane. Cytoplasm. Note: Localizes to the pericentriolar region throughout the cell cycle. Centrosomal localization requires dynein. Localizes to nonmembranous centriolar satellites in the cytoplasm. TISSUE SPECIFICITY: Ubiquitously expressed. The highest level of expression is found in the kidney. Also known as: BBS4.

Specificity: Appears to be specific for BBS4.

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

Mykytyn, Braun, Carmi et al.: "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4." in: Nature genetics, Vol. 28, Issue 2, pp. 188-91, 2001 (PubMed).

Katsanis, Eichers, Ansley et al.: "BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance." in: American journal of human genetics, Vol. 71, Issue 1, pp. 22-9, 2002 (PubMed).

Kim, Badano, Sibold et al.: "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression." in: Nature genetics, Vol. 36, Issue 5, pp. 462-70, 2004 (PubMed).

Ye, Dai, Fang et al.: "Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)." in: DNA sequence : the journal of DNA sequencing and mapping, Vol. 15, Issue 3, pp. 213-8, 2004 (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).