ROBO3 Antibody

說明書

中文名稱：

ROBO3兔多克隆抗體
貨號：

CSB-PA020056GA01HU
規(guī)格：

￥3,900
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

Uniprot No.：

Q96MS0
基因名：

ROBO3
別名：

FLJ21044 antibody; HGPPS antibody; HGPS antibody; RB inhibiting gene 1 antibody; Rbig 1 antibody; Rbig1 antibody; Retinoblastoma inhibiting gene 1 antibody; Rig 1 antibody; Rig1 antibody; Robo 3 antibody; Robo3 antibody; Robo3 protein antibody; ROBO3_HUMAN antibody; Roundabout axon guidance receptor homolog 3 antibody; Roundabout homolog 3 antibody; Roundabout like protein 3 antibody; Roundabout, axon guidance receptor, homolog 3 (Drosophila) antibody; Roundabout-like protein 3 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human,Mouse
免疫原：

Human ROBO3
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

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

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA,WB,IHC
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) 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(chǎn)品評價

靶點詳情

功能：

Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1. Required for hindbrain axon midline crossing.
基因功能參考文獻：
1. In our case, we found a novel homozygous mutation p.R842* (c.2524C>T) causing a premature stop codon which is a disease-making mutation. PMID: 27267957
2. confirmed that ROBO3 increases with clinical grade and miR-383 expression is inversely correlated to that of ROBO3 PMID: 26070964
3. human AKAP79-anchored PKC selectively phosphorylates the Robo3.1 receptor subtype on serine 1330 PMID: 25882844
4. We report the case of a 10-month-old girl with cross-fixation and inability to abduct who was genetically proven to have horizontal gaze palsy with progressive scoliosis (recessive ROBO3 mutations). PMID: 24969490
5. Robo3.1A may prevent the Slit responsiveness by recruiting Robo1/2 into a late endosome- and lysosome-dependent degradation pathway. PMID: 24936616
6. The novel ROBO3 mutation in this family may be among the most deleterious PMID: 21592015
7. This patient had clinical and neuroimaging characteristics considered pathognomonic of horizontal gaze palsy and progressive scoliosis and yet did not have ROBO3 mutations PMID: 21510772
8. Three novel ROBO3 mutations have been identified in consanguineous patients with horizontal gaze palsy and progressive scoliosis. PMID: 21850172
9. Slit3 inhibits Robo3-induced invasion of synovial fibroblasts in rheumatoid arthritis. PMID: 20298552
10. identified mutations in the ROBO3 gene in patients affected with horizontal gaze palsy with progressive scoliosis (HGPPS);ROBO3 is required for hindbrain axon midline crossing PMID: 15105459
11. The major clinical characteristics of patients with mutated ROBO3 were horizontal gaze palsy, progressive scoliosis, and brainstem malformations. PMID: 15824346
12. Here we describe and compare two human Robo3 isoforms, Robo3A and Robo3B, which differ by the insertion of 26 amino acids at the N-terminus, and these forms appear to be evolutionary conserved PMID: 16226035
13. Incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations may be greater than in the general population. PMID: 16525029
14. No evidence for association between Gilles de la Tourette Syndrome and either the ROBO3 gene. Thus, this gene is unlikely to be the susceptibility genes contributing to GTS on 11q24. PMID: 17671968
15. Four SNPs of ROBO3 showed associations with autism PMID: 18270976
16. This study found five novel homozygous ROBO3 mutations (four missense mutations and one base deletion) distributed throughout the extracellular domain of the gene in consanguineous families with horizontal gaze palsy and progressive scoliosis. PMID: 18829051
17. This is the second reported patient with synergistic convergence and the first associated with a documented pathologic genotype. PMID: 19041479
18. mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse. PMID: 15105459
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相關(guān)疾病：

Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1)
亞細(xì)胞定位：

Membrane; Single-pass type I membrane protein.
蛋白家族：

Immunoglobulin superfamily, ROBO family
數(shù)據(jù)庫鏈接：

HGNC: 13433

OMIM: 607313

KEGG: hsa:64221

STRING: 9606.ENSP00000380903

UniGene: Hs.435621

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