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Mouse Anti-BBS1 Recombinant Antibody (CBYY-0251) (CBMAB-0252-YY)

This product is rabbit antibody that recognizes BBS1. The antibody CBYY-0251 can be used for immunoassay techniques such as: WB, ICC
See all BBS1 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat, Cattle, Dog, Pig, Horse
Clone
CBYY-0251
Antibody Isotype
IgG1, κ
Application
WB, IP, IF, ELISA, IHC-P

Basic Information

Immunogen
Amino acids 291-590 mapping near the C-terminus of BBS1 of human origin.
Host Species
Mouse
Specificity
Human, Mouse, Rat, Cattle, Dog, Pig, Horse
Antibody Isotype
IgG1, κ
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
ApplicationNote
WB1:100-1:1,000
IP1-2 µg per 100-500 µg of total protein (1 ml of cell lysate)
IF(ICC)1:50-1:500
ELISA1:100-1:1,000
IHC-P1:50-1:500

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, 0.1% gelatin
Preservative
< 0.1% sodium azide
Concentration
0.2 mg/ml
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 296-345

Target

Full Name
Bardet-Biedl Syndrome 1
Introduction
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.
Entrez Gene ID
Human582
Mouse52028
Rat309156
UniProt ID
HumanQ8NFJ9
MouseQ3V3N7
RatD4A4U2
Alternative Names
Bardet-Biedl Syndrome 1; BBS2-Like Protein 2; BBS2L2; Bardet-Biedl Syndrome 1 Protein;
Function
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 (PubMed:17574030, PubMed:22072986).
Plays a role in olfactory cilium biogenesis/maintenance and trafficking (By similarity).
Biological Process
Cilium assembly Source: BHF-UCL
Golgi to plasma membrane protein transport Source: MGI
Non-motile cilium assembly Source: BHF-UCL
Photoreceptor cell maintenance Source: BHF-UCL
Protein localization to cilium Source: GO_Central
Response to stimulus Source: UniProtKB-KW
Sensory perception of smell Source: UniProtKB-KW
Visual perception Source: UniProtKB-KW
Cellular Location
Centriolar satellite; Cytoplasm; Cilium membrane
Involvement in disease
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 (BBS1): 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.

Cassioli, C., Onnis, A., Finetti, F., Capitani, N., Brunetti, J., Compeer, E. B., ... & Baldari, C. T. (2021). The Bardet–Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly. Journal of cell science, 134(16), jcs258462.

Delvallée, C., Nicaise, S., Antin, M., Leuvrey, A. S., Nourisson, E., Leitch, C. C., ... & Muller, J. (2021). A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome. Clinical Genetics, 99(2), 318-324.

Masek, M., Etard, C., Hofmann, C., Hülsmeier, A. J., Zang, J., Takamiya, M., ... & Bachmann-Gagescu, R. (2021). The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition. arXiv. org, (452166).

Katagiri, S., Hosono, K., Hayashi, T., Murai, N., Wake, E., Miyata, I., ... & Hotta, Y. (2020). Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient. Documenta Ophthalmologica, 141(1), 77-88.

Yeo, D. C., Moore, W., Lloyd, I. C., Forsythe, E., & Thompson, D. (2018). Foveal hyper fundus autofluorescence in paediatric Bardet-Biedl syndrome-1 (BBS1) patients before electrophysiological and visual function findings of retinal dysfunction. Investigative Ophthalmology & Visual Science, 59(9), 2319-2319.

Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., ... & Møller, L. B. (2018). Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c. 1169T> G/c. 1135G> C. Stem cell research, 31, 235-239.

Guo, D. F., Bell, B., Reho, J. J., & Rahmouni, K. (2017). mTORC1 is Involved in the Regulation of Bardet‐Biedl Syndrome 1 (BBS1) Gene Expression. The FASEB Journal, 31, 1038-2.

Jiang, J., Reho, J. J., & Rahmouni, K. (2017). Bardet‐Biedl Syndrome 1 (BBS1) protein contributes to vascular endothelial function. The FASEB Journal, 31, 691-11.

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For research use only. Not intended for any clinical use.

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