BBS4 Antibody – Rabbit Polyclonal

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 mental retardation. 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 forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

BBS4: 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 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 BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4). 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. Belongs to the BBS4 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation; Adaptor/scaffold; Microtubule-binding

Chromosomal Location of Human Ortholog: 15q22.3-q23

Cellular Component: centriole; centrosome; cilium; cytosol; nonmotile primary cilium; nucleus; pericentriolar material; photoreceptor connecting cilium; photoreceptor inner segment; photoreceptor outer segment

Molecular Function: alpha-tubulin binding; beta-tubulin binding; microtubule motor activity; protein binding

Biological Process: adult behavior; brain morphogenesis; centrosome organization and biogenesis; cerebral cortex development; cilium biogenesis; cytokinesis after mitosis; dendrite development; fat cell differentiation; heart looping; hippocampus development; intracellular transport; maintenance of protein localization in nucleus; melanosome transport; microtubule cytoskeleton organization and biogenesis; negative regulation of actin filament polymerization; negative regulation of systemic arterial blood pressure; neural tube closure; neuron migration; photoreceptor cell maintenance; positive regulation of flagellum biogenesis; positive regulation of multicellular organism growth; protein localization in organelle; protein transport; regulation of cytokinesis; regulation of lipid metabolic process; regulation of stress fiber formation; retinal homeostasis; retinal rod cell development; sensory cilium biogenesis; sensory perception of smell; sensory processing; social behavior; spermatid development; striatum development; ventricular system development; visual perception

Disease: Bardet-biedl Syndrome 1; Bardet-biedl Syndrome 4