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Bardet-Biedl syndrome 5 protein

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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 BBSome complex ciliary localization but not for the proper complex assembly.

Below are the list of possible Bardet-Biedl syndrome 5 protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Bardet-Biedl syndrome 5 protein

 Bardet-Biedl syndrome 5 protein ELISA Kit
 Bardet-Biedl syndrome 5 protein Recombinant
 Bardet-Biedl syndrome 5 protein Antibody
BBS5: 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 t
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o 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. Defects in BBS5 are a cause of Bardet-Biedl syndrome type 5 (BBS5). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous 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. Belongs to the BBS5 family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 2q31.1

Cellular Component: cytosol; intracellular

Molecular Function: phosphatidylinositol 3-phosphate binding; protein binding

Biological Process: heart looping; intracellular transport; melanosome transport

Disease: Bardet-biedl Syndrome 5
 BBS5 ELISA Kit
 BBS5 Recombinant
 BBS5 Antibody
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Bardet-Biedl syndrome 5 protein homolog

 Bardet-Biedl syndrome 5 protein homolog ELISA Kit
 Bardet-Biedl syndrome 5 protein homolog Recombinant
 Bardet-Biedl syndrome 5 protein homolog Antibody
Required for ciliogenesis.
 bbs5 ELISA Kit
 bbs5 Recombinant
 bbs5 Antibody
 zgc:56578 ELISA Kit
 zgc:56578 Recombinant
 zgc:56578 Antibody
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