|Application ||WB, E|
|Other Accession||NP_001158145.1, NP_775931.3|
|Calculated MW||53097 Da|
|Antigen Region||26-55 aa|
|Other Names||Protein Dok-7, Downstream of tyrosine kinase 7, DOK7, C4orf25|
|Target/Specificity||This DOK7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 26-55 amino acids from the N-terminal region of human DOK7.|
|Format||Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||DOK7 Antibody (N-term) is for research use only and 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 for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple 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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