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Bardet-Biedl syndrome 2 protein

Below are the list of possible Bardet-Biedl syndrome 2 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 2 protein

 Bardet-Biedl syndrome 2 protein ELISA Kit
 Bardet-Biedl syndrome 2 protein Recombinant
 Bardet-Biedl syndrome 2 protein Antibody
BBS2: 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
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 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.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: 16q21

Cellular Component: cytosol; membrane

Molecular Function: protein binding

Biological Process: adult behavior; brain morphogenesis; cerebral cortex development; fat cell differentiation; Golgi to plasma membrane protein transport; hippocampus development; melanosome transport; negative regulation of multicellular organism growth; photoreceptor cell maintenance; protein localization; protein localization in organelle; sperm axoneme assembly; striatum development; visual perception

Disease: Bardet-biedl Syndrome 2; Retinitis Pigmentosa 74
 BBS2 Recombinant
 BBS2 Antibody
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Bardet-Biedl syndrome 2 protein homolog

 Bardet-Biedl syndrome 2 protein homolog ELISA Kit
 Bardet-Biedl syndrome 2 protein homolog Recombinant
 Bardet-Biedl syndrome 2 protein homolog Antibody
Required for ciliogenesis.
 bbs2 ELISA Kit
 bbs2 Recombinant
 bbs2 Antibody
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