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BBS1 Rabbit pAb (bs-11507R)  
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產品編號 bs-11507R
英文名稱 BBS1 Rabbit pAb
中文名稱 巴爾得-別德爾綜合征相關蛋白5抗體
別    名 AI451249; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1 homolog; Bardet-Biedl syndrome 1 protein; BBS1; BBS1_HUMAN; BBS2-like protein 2; D19Ertd609e.  
研究領域 細胞生物  神經生物學  內分泌病  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 Human,Mouse,Rat (predicted: Rabbit,Sheep,Cow,Dog,Horse)
產品應用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 65 kDa
檢測分子量
細胞定位 細胞漿 細胞膜 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human BBS5: 181-270/593 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 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.

Function:
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.

Subunit:
Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B.

Subcellular Location:
Cell projection

Tissue Specificity:
Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.

DISEASE:
Defects in BBS1 are a cause of Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous 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. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance).

SWISS:
Q8NFJ9

Gene ID:
582

Database links:

Entrez Gene: 582 Human

Entrez Gene: 52028 Mouse

Entrez Gene: 309156 Rat

Omim: 209901 Human

SwissProt: Q8NFJ9 Human

Unigene: 502915 Human

Unigene: 23636 Mouse

Unigene: 12497 Rat



BBS蛋白是一類研究早期兒童肥胖綜合癥有關的其中一種。巴爾得-別德爾綜合征(Bardet-Biedl syndrome,BBS)的特征為不同程度的肥胖、智力延遲、色素視網膜病變、多指和腎臟異常。
產品圖片
Sample: HepG2(Human) Cell Lysate at 30 ug U2os(Human) Cell Lysate at 30 ug Primary: Anti- BBS1 (bs-11507R) at 1/1000 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 65 kD Observed band size: 65 kD
Sample: Hela(Human) Cell Lysate at 30 ug Primary: Anti- BBS1 (bs-11507R) at 1/1000 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 65 kD Observed band size: 65 kD
Paraformaldehyde-fixed, paraffin embedded (mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (BBS1) Polyclonal Antibody, Unconjugated (bs-11507R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
Paraformaldehyde-fixed, paraffin embedded (rat brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (BBS1) Polyclonal Antibody, Unconjugated (bs-11507R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
U87MG cell; 4% Paraformaldehyde-fixed; Triton X-100 at room temperature for 20 min; Blocking buffer (normal goat serum, C-0005) at 37°C for 20 min; Antibody incubation with (BBS1) polyclonal Antibody, Unconjugated (bs-11507R) 1:100, 90 minutes at 37°C; followed by a conjugated Goat Anti-Rabbit IgG antibody at 37°C for 90 minutes, DAPI (blue, C02-04002) was used to stain the cell nuclei.
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