|Other Names||Protein Dok-7, Downstream of tyrosine kinase 7, DOK7, C4orf25|
|Target/Specificity||The synthetic peptide sequence used to generate the antibody AP13568a was selected from the N-term region of DOK7. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||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.|
|Cellular Location||Cell membrane; Peripheral membrane protein. Cell junction, synapse. Note=Accumulates at neuromuscular junctions|
|Tissue Location||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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Provided below are standard protocols that you may find useful for product applications.
The protein encoded by this gene is essential forneuromuscular synaptogenesis. The protein functions in aneuralactivation of muscle-specific receptor kinase, which is requiredfor postsynaptic differentiation, and in the subsequent clusteringof the acetylcholine receptor in myotubes. This protein can alsoinduce autophosphorylation of muscle-specific receptor kinase.Mutations in this gene are a cause of familial limb-girdlemyasthenia autosomal recessive, which is also known as congenitalmyasthenic syndrome type 1B. Alternative splicing results inmultiple transcript variants.
Bergamin, E., et al. Mol. Cell 39(1):100-109(2010)Srour, M., et al. Neuromuscul. Disord. 20(7):453-457(2010)Maselli, R.A., et al. Hum. Mol. Genet. 19(12):2370-2379(2010)Ben Ammar, A., et al. J. Neurol. 257(5):754-766(2010)Vogt, J., et al. J. Med. Genet. 46(5):338-340(2009)
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