Mouse Anti-BBS4 Recombinant Antibody (CBYY-1861) (CBMAB-2210-YY)

Bardet-Biedl Syndrome 4

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forMouse a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants.

Bardet-Biedl Syndrome 4;

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 proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.

Adult behavior Source: BHF-UCL
Brain morphogenesis Source: BHF-UCL
Centrosome cycle Source: UniProtKB
Cerebral cortex development Source: BHF-UCL
Cilium assembly Source: BHF-UCL
Dendrite development Source: BHF-UCL
Fat cell differentiation Source: BHF-UCL
Heart looping Source: BHF-UCL
Hippocampus development Source: BHF-UCL
Intracellular transport Source: BHF-UCL
Maintenance of protein location in nucleus Source: BHF-UCL
Melanosome transport Source: BHF-UCL
Microtubule anchoring at centrosome Source: BHF-UCL
Microtubule cytoskeleton organization Source: BHF-UCL
Mitotic cytokinesis Source: BHF-UCL
Negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
Neural tube closure Source: BHF-UCL
Non-motile cilium assembly Source: BHF-UCL
Photoreceptor cell maintenance Source: BHF-UCL
Positive regulation of cilium assembly Source: BHF-UCL
Protein localization to centrosome Source: BHF-UCL
Protein localization to cilium Source: GO_Central
Protein localization to organelle Source: BHF-UCL
Protein transport Source: UniProtKB-KW
Regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
Regulation of cytokinesis Source: BHF-UCL
Regulation of lipid metabolic process Source: BHF-UCL
Retina homeostasis Source: BHF-UCL
Retinal rod cell development Source: BHF-UCL
Sensory perception of smell Source: BHF-UCL
Sensory processing Source: BHF-UCL
Spermatid development Source: BHF-UCL
Striatum development Source: BHF-UCL
Visual perception Source: UniProtKB-KW

Centrosome; Centriolar satellite; Cytoplasm; Cilium membrane; Flagellum; Cilium. Localizes to the pericentriolar material. Centrosomal localization requires dynein (By similarity). Localizes to the connecting cilium of photoreceptor cells (By similarity).

Bardet-Biedl syndrome 4 (BBS4): A syndrome 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. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.