The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/50 - 1/100. Detects a band of approximately 58 kDa.
機能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.
組織特異性Ubiquitously expressed. The highest level of expression is found in the kidney.
関連疾患Defects in BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]. 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.
配列類似性Belongs to the BBS4 family. Contains 10 TPR repeats.
細胞内局在Cytoplasm > cytoskeleton > centrosome. Cytoplasm > cytoskeleton. Cell projection > cilium membrane. Cytoplasm. Localizes to the pericentriolar region throughout the cell cycle. Centrosomal localization requires dynein. Localizes to nonmembranous centriolar satellites in the cytoplasm.