- Catalog number
- A05165-1
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- 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.
- Synonyms
- Protein Dok-7; Downstream of tyrosine kinase 7; DOK7; C4orf25
- Gene Name
- DOK7
- Gene ID
- 285489
- UniProt
- Q18PE1
- Host
- Rabbit
- Reactivity
- Human, Mouse, Rat
- Cross Reactivity
- No cross-reactivity with other proteins.
- Immunogen
- 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.
- Clonality
- Polyclonal
- Tissue Specificity
- Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen .
- Applications
- Flow Cytometry, IHC, WB
- Field of Research
- Adapters, Protein Phosphorylation, Receptor Tyrosine Kinases, Signal Transduction, Transmembrane, Tyrosine Kinases
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- 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.
- References & Citations
- 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.
- Storage Conditions
- Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.
- Calculated Molecular Weight
- 67074 MW
- Observed Molecular Weight
- 65 kDa
- Specificity
- No cross reactivity with other proteins.
- Applications Notes
- 6
- Gene Name Synonym
- Docking protein 7
- Subcellular Location
- Cell membrane, Peripheral membrane protein, Synapse.
- Protein Name
- Long-chain-fatty-acid--CoA ligase 5
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 4 mg Trehalose, 0.9 mg NaCl and 0.2 mg Na2HPO4.