DOK7 Antibody, FITC conjugated

說明書

中文名稱：

DOK7兔多克隆抗體, FITC偶聯(lián)
貨號：

CSB-PA623281LC01HU
規(guī)格：

￥880
其他：

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

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) DOK7 Polyclonal antibody
Uniprot No.：

Q18PE1
基因名：

DOK7
別名：

Docking protein 7 antibody; DOK 7 antibody; DOK7 antibody; DOK7_HUMAN antibody; Downstream of tyrosine kinase 7 antibody; Protein Dok-7 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Protein Dok-7 protein (416-504AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

FITC
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(chǎn)品提供形式：

Liquid
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(diǎn)詳情

功能：

Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
基因功能參考文獻(xiàn)：
1. Repression of Dok7 expression via DNMT1 mediated DNA methylation promotes glioma cell proliferation. PMID: 29990858
2. Silencing DNMT3A inhibits proliferation and invasion in ESCC cells by inducing demethylation of DOK7. PMID: 28343076
3. DOK7 was reduced in lung cancer and reduced DOK7 expression was associated with poorer survival.DOK7 isoform 1 plays an inhibitory role on the proliferation and migration of lung cancer cells. PMID: 28393246
4. Individuals with DOK7 congenital myasthenic syndrome displayed stridor and feeding difficulties at birth or progressive weakness despite normal milestones in infancy pointing to a diagnosis and should lead to neurophysiological and genetic investigation PMID: 23831158
5. this study demonistrated that Salbutamol is an effective treatment in patient wity congenital myasthenic syndrome due to DOK7 mutation. PMID: 23790237
6. DOK7 limb-girdle myasthenic syndrome can mimick congenital muscular dystrophy. PMID: 22884442
7. Hypermethylation of DOK7 occurs years before tumor diagnosis, suggesting a role as a powerful epigenetic blood-based biomarker as well as providing insights into breast cancer pathogenesis PMID: 23054610
8. In contrast to AChR deficiency due to epsilon subunit mutations, onset of DOK7 CMS tends to be later--ages two to three years--and in DOK7 CMS eye movements are usually spared and anticholinesterases can exacerbate the weakness PMID: 23278577
9. The DOK7 gene is highly polymorphic, and within these many variants, a spectrum of mutations that can underlie DOK7 Congenital myasthenic syndromes that will inform in managing this disorder, were defined. PMID: 22661499
10. Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations. PMID: 21305573
11. 6 CMS patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy and difficulty with feeding PMID: 20554332
12. This study demonistreated that DOK7 mutation casused congenital myasthenic syndrome in French Canadians. PMID: 20610155
13. these findings demonstrate that missense mutations in MUSK can result in a severe form of congenital myasthenic syndrome and indicate that the inability of MuSK mutants to interact with Dok-7. PMID: 20371544
14. We report clinical, morphological and molecular data on 15 congenital myasthenic syndrome patients with mutations in DOK7; characterization of this distinct phenotype is essential to provide clues for targeted genetic screening and therapy PMID: 20012313
15. The crystal structure of the Dok7 PH-PTB domains in complex with a phosphopeptide representing the Dok7-binding site on MuSK, is presented. PMID: 20603078
16. Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK PMID: 16794080
17. findings showed that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of congenital myasthenic syndromes with proximal muscle weakness PMID: 16917026
18. study of patients with congenital myasthenic syndromes with mutations in DOK7; none with DOK7 mutations had tubular aggregates in muscle biopsy, implying 'limb-girdle myasthenia with tubular aggregates' may be distinct from CMS caused by DOK7 mutations PMID: 17439981
19. considerable phenotypic variability associated with congenital myasthenic syndrome due to DOK7 mutations PMID: 18161030
20. the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis. PMID: 18165682
21. Dok-7 is essential for not only the size but also the structural integrity of the EP. The structural alterations at the EPs cause the reduced safety margin of neuromuscular transmission. PMID: 18626973
22. Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation. PMID: 19244212
23. whereas incomplete loss of DOK7 function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype PMID: 19261599
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相關(guān)疾病：

Myasthenic syndrome, congenital, 10 (CMS10)
亞細(xì)胞定位：

Cell membrane; Peripheral membrane protein. Cell junction, synapse.
組織特異性：

Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).
數(shù)據(jù)庫鏈接：

HGNC: 26594

OMIM: 254300

KEGG: hsa:285489

STRING: 9606.ENSP00000344432

UniGene: Hs.122110

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