BBS1 Antibody

中文名稱：

BBS1兔多克隆抗體
貨號：

CSB-PA836736LA01HU
規格：

￥440
圖片：
Western Blot
Positive WB detected in: Mouse lung tissue
All lanes: BBS1 antibody at 1μg/ml
Secondary
Goat polyclonal to rabbit IgG at 1/50000 dilution
Predicted band size: 66, 70, 50 kDa
Observed band size: 66 kDa

Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA836736LA01HU at dilution of 1:100

Immunohistochemistry of paraffin-embedded human liver tissue using CSB-PA836736LA01HU at dilution of 1:100

Immunofluorescent analysis of HepG2 cells using CSB-PA836736LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) BBS1 Polyclonal antibody
Uniprot No.：

Q8NFJ9
基因名：

BBS1
別名：

AI451249 antibody; Bardet-Biedl syndrome 1 antibody; Bardet-Biedl syndrome 1 homolog antibody; Bardet-Biedl syndrome 1 protein antibody; BBS1 antibody; BBS1_HUMAN antibody; BBS2-like protein 2 antibody; BBS2L2 antibody; D19Ertd609e antibody
宿主：

Rabbit
反應種屬：

Human, Mouse
免疫原：

Recombinant Human Bardet-Biedl syndrome 1 protein (217-417AA)
免疫原種屬：

Homo sapiens (Human)

標記方式：

Non-conjugated

本頁面中的產品，BBS1 Antibody (CSB-PA836736LA01HU)，的標記方式是Non-conjugated。對于BBS1 Antibody，我們還提供其他標記。見下表：

標記方式	貨號	產品名稱	應用
HRP	CSB-PA836736LB01HU	BBS1 Antibody, HRP conjugated	ELISA
FITC	CSB-PA836736LC01HU	BBS1 Antibody, FITC conjugated
Biotin	CSB-PA836736LD01HU	BBS1 Antibody, Biotin conjugated	ELISA

克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產品提供形式：

Liquid
應用范圍：

ELISA, WB, IHC, IF

推薦稀釋比：

Application	Recommended Dilution
WB	1:500-1:5000
IHC	1:20-1:200
IF	1:50-1:200

Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

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. Plays a role in olfactory cilium biogenesis/maintenance and trafficking.
基因功能參考文獻：
1. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
2. M390R mutation in BBS1 reduces surface expression of insulin receptor in fibroblasts derived from BBS patients. PMID: 26103456
3. BBS1 emerged as a novel predictor of overall survival in MPM. PMID: 26254420
4. Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. PMID: 24611735
5. We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4. PMID: 26022370
6. A homozygous BBS1 p.M390R mutation is associated with Bardet-Biedl syndrome. PMID: 25494902
7. novel BBS1 mutations in Bardet-Biedl syndrome patients in Spain PMID: 24611592
8. Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. PMID: 24939912
9. mediates endosomal recycling, sorting and signal transduction of Notch receptors PMID: 24681783
10. Novel mutations (c.1110G>A and c.39delA (p.G13fs*41)) in BBS1 found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
11. loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment. PMID: 24691443
12. Exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1. PMID: 23559858
13. Our findings confirm the consistent pathogenicity of the BBS1 M390R mutation in Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. PMID: 22940089
14. Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS. PMID: 23143442
15. Patients with BBS1 mutations had a milder phenotype than did patients with mutations in other BBS genes. PMID: 22410627
16. this report describes the identification and characterization of a splice donor site mutation that leads to missplicing of BBS1 transcripts in Bardet-Biedl syndrome. PMID: 21520335
17. This protein has amino acid sequence homolgy with mice. Missense mutation accounts for about 80% of all BBS1 mutations on a similar genetic background across populations. PMID: 12524598
18. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with this protein. PMID: 12567324
19. BBS1 participates in complex inheritance and in different families, mutations in BBS1 can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype PMID: 12677556
20. The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype. PMID: 12837689
21. disease-associated alleles occur at relatively high frequencies in normal haplotypes PMID: 15517396
22. The cardinal feature of retinal degeneration in BBS1 can show a wide spectrum of disease expression. PMID: 17065520
23. A novel BBS1 mutation was identified, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate. PMID: 18669544
24. Although neither proband fulfilled the typical criteria for BBS, this diagnosis was confirmed on mutation analysis. PMID: 18766993
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相關疾病：

Bardet-Biedl syndrome 1 (BBS1)
亞細胞定位：

Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
組織特異性：

Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
數據庫鏈接：

HGNC: 966

OMIM: 209900

KEGG: hsa:582

STRING: 9606.ENSP00000317469

UniGene: Hs.502915

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