Anti-DOK7 Antibody Picoband® Fluoro647 Conjugated

Dok-7 is a non-catalytic cytoplasmic adaptor protein that is expressed specifically in muscle and is essential for the formation of neuromuscular synapses. Further, Dok-7 contains pleckstrin homology (PH) and phosphotyrosine-binding (PTB) domains that are critical for Dok-7 function. It is mapped to 4p16.3. 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.

A synthetic peptide corresponding to a sequence in the middle region of human DOK7, which shares 86.2% amino acid (aa) sequence identity with mouse DOK7.

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.

1. Arimura, S., Okada, T., Tezuka, T., Chiyo, T., Kasahara, Y., Yoshimura, T., Motomura, M., Yoshida, N., Beeson, D., Takeda, S., Yamanashi, Y. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction. Science 345: 1505-1508, 2014. 2. Beeson, D., Higuchi, O., Palace, J., Cossins, J., Spearman, H., Maxwell, S., Newsom-Davis, J., Burke, G., Fawcett, P., Motomura, M., Muller, J. S., Lochmuller, H., Slater, C., Vincent, A., Yamanashi, Y. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313: 1975-1978, 2006. 3. Hallock, P. T., Xu, C.-F., Park, T.-J., Neubert, T. A., Curran, T., Burden, S. J. Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L. Genes Dev. 24: 2451-2461, 2010.