Anti-BBS1 monoclonal antibody (DCABH-4968)


Host Species
Antibody Isotype
Species Reactivity
Mouse, Rat, Human
Synthetic peptide corresponding to residues in Human BBS1


Application Notes
WB: 1/1000 - 1/5000; ICC/IF: 1/100 - 1/250;
*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.


Alternative Names
BBS1; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1 protein; FLJ23590; BBS2-like protein 2; BBS2L2
Entrez Gene ID
UniProt ID

Product Background

Gene summary
BBS1 (Bardet-Biedl Syndrome 1) is a Protein Coding gene. Diseases associated with BBS1 include bardet-biedl syndrome 1 and bardet-biedl syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include RNA polymerase II repressing transcription factor binding and smoothened binding. An important paralog of this gene is ENSG00000256349. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
Antigen Description
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. Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS1, influence the clinical outcome. Bardet-Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. 0The function about BBS1 antigen include protein binding.


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Hartmann, TB; Bazhin, AV; et al. SEREX identification of new tumor antigens linked to melanoma-associated retinopathy. INTERNATIONAL JOURNAL OF CANCER 114:88-93(2005).
Rabinovich-Nikitin, I; Rakover, IS; et al. Beneficial Effect of Antibodies against beta- Secretase Cleavage Site of App on Alzheimer's-Like Pathology in Triple-Transgenic Mice. PLOS ONE 7:-(2012).

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