DOK7 Antibody
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中文名稱：DOK7兔多克隆抗體
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貨號：CSB-PA111761
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規格：￥2024
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圖片：
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Western blot analysis of extracts from mouse brain cells, using DOK7 antibody. -
Immunohistochemistry analysis of paraffin-embedded human brain tissue using DOK7 antibody. -
Immunofluorescence analysis of HepG2 cells, using DOK7 antibody.
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) DOK7 Polyclonal antibody
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Uniprot No.：
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基因名：DOK7
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宿主：Rabbit
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反應種屬：Human,Mouse
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免疫原：Synthesized peptide derived from N-terminal of Human DOK7.
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免疫原種屬：Homo sapiens (Human)
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克隆類型：Polyclonal
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純化方式：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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濃度：It differs from different batches. Please contact us to confirm it.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IHC,IF
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推薦稀釋比：
Application Recommended Dilution WB 1:500-1:3000 IHC 1:50-1:100 IF 1:100-1:500 -
Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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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.
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基因功能參考文獻：
- Repression of Dok7 expression via DNMT1 mediated DNA methylation promotes glioma cell proliferation. PMID: 29990858
- Silencing DNMT3A inhibits proliferation and invasion in ESCC cells by inducing demethylation of DOK7. PMID: 28343076
- 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
- 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
- this study demonistrated that Salbutamol is an effective treatment in patient wity congenital myasthenic syndrome due to DOK7 mutation. PMID: 23790237
- DOK7 limb-girdle myasthenic syndrome can mimick congenital muscular dystrophy. PMID: 22884442
- 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
- 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
- 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
- Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations. PMID: 21305573
- 6 CMS patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy and difficulty with feeding PMID: 20554332
- This study demonistreated that DOK7 mutation casused congenital myasthenic syndrome in French Canadians. PMID: 20610155
- 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
- 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
- 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
- Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK PMID: 16794080
- 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
- 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
- considerable phenotypic variability associated with congenital myasthenic syndrome due to DOK7 mutations PMID: 18161030
- the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis. PMID: 18165682
- 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
- Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation. PMID: 19244212
- 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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相關疾病：Myasthenic syndrome, congenital, 10 (CMS10)
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亞細胞定位：Cell membrane; Peripheral membrane protein. Cell junction, synapse.
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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).
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數據庫鏈接：
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