DOK7 Antibody
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Description
2.1. Detection of DOK7 in Neuromuscular Tissues
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The antibody detects DOK7 in human skeletal muscle, heart, and spinal cord .
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IHC protocols recommend antigen retrieval with TE buffer (pH 9.0) or citrate buffer (pH 6.0) .
2.2. Mechanistic Studies
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DOK7 interacts with MuSK to facilitate acetylcholine receptor (AChR) clustering . Antibodies have been used to study:
3.1. Congenital Myasthenia (CM)
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Antibody therapy: X17, a MUSK-targeting antibody, rescues synapse formation and reverses lethality in Dok7 mutant mice .
3.2. Gene Therapy
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AAV9-tMCK-DOK7 vector: Achieves muscle-specific DOK7 overexpression for up to 6 months in mice, with no systemic toxicity .
Key Research Findings
Product Specs
Form
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Lead Time
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Synonyms
Docking protein 7 antibody; DOK 7 antibody; DOK7 antibody; DOK7_HUMAN antibody; Downstream of tyrosine kinase 7 antibody; Protein Dok-7 antibody
Target Names
DOK7
Uniprot No.
Target Background
Function
DOK7 is a probable muscle-intrinsic activator of MUSK that plays a critical role in neuromuscular synaptogenesis. It acts in the aneural activation of MUSK and the subsequent clustering of acetylcholine receptors (AChR) in myotubes. DOK7 also induces autophosphorylation of MUSK.
Gene References Into Functions
- 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 expression was reduced in lung cancer, and reduced DOK7 expression was associated with poorer survival. DOK7 isoform 1 plays an inhibitory role in the proliferation and migration of lung cancer cells. PMID: 28393246
- Individuals with DOK7 congenital myasthenic syndrome (CMS) exhibited stridor and feeding difficulties at birth or progressive weakness despite normal milestones in infancy. This points towards a potential diagnosis and should lead to neurophysiological and genetic investigations. PMID: 23831158
- This study demonstrated that Salbutamol is an effective treatment in patients with CMS due to DOK7 mutations. PMID: 23790237
- DOK7 limb-girdle myasthenic syndrome can mimic congenital muscular dystrophy. PMID: 22884442
- Hypermethylation of DOK7 occurs years before tumor diagnosis, suggesting a role as a potent epigenetic blood-based biomarker and providing insights into breast cancer pathogenesis. PMID: 23054610
- In contrast to AChR deficiency due to epsilon subunit mutations, the onset of DOK7 CMS tends to be later, at ages two to three years, and in DOK7 CMS, eye movements are usually spared, and anticholinesterases can exacerbate 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, which will inform the management of this disorder, were defined. PMID: 22661499
- Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations. PMID: 21305573
- Six CMS patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy, and difficulty with feeding. PMID: 20554332
- This study demonstrated that DOK7 mutation caused CMS in French Canadians. PMID: 20610155
- These findings demonstrate that missense mutations in MUSK can result in a severe form of CMS and indicate that the inability of MuSK mutants to interact with Dok-7. PMID: 20371544
- We report clinical, morphological, and molecular data on 15 CMS 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 CMS with proximal muscle weakness. PMID: 16917026
- A study of patients with CMS with mutations in DOK7 revealed that none with DOK7 mutations had tubular aggregates in muscle biopsy, implying that 'limb-girdle myasthenia with tubular aggregates' may be distinct from CMS caused by DOK7 mutations. PMID: 17439981
- There is considerable phenotypic variability associated with CMS 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
- While incomplete loss of DOK7 function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype. PMID: 19261599
Database Links
Involvement In Disease
Myasthenic syndrome, congenital, 10 (CMS10)
Subcellular Location
Cell membrane; Peripheral membrane protein. Cell junction, synapse.
Tissue Specificity
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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