Protein Dok-7 (DOK7) Antibody
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Description
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.
Documents del producto
Product specifications
| Category | Primary Antibodies |
| Immunogen Target | Protein Dok-7 (DOK7) |
| Host | Rabbit |
| Reactivity | Mouse |
| Recommended Dilution | WB: 1/1000. Optimal dilutions/concentrations should be determined by the end user. |
| Clonality | Polyclonal |
| Conjugation | Unconjugated |
| Isotype | IgG |
| Purification | Purified through a protein A column, followed by peptide affinity purification. |
| Size 1 | 80 µl |
| Size 2 | 400 µl |
| Form | Liquid |
| Tested Applications | ELISA, WB |
| Buffer | PBS containing 0.09% sodium azide. |
| Availability | Shipped within 5-10 working days. |
| Storage | Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles. |
| Dry Ice | No |
| UniProt ID | Q18PE1 |
| Alias | C4orf25,Protein Dok-7,Dok-7,CMS10,CMS1B,FADS3,Downstream of tyrosine kinase 7 |
| Background | Antibody anti-DOK7 |
| Status | RUO |
Descripción
Docking protein 7 (DOK7) is an essential cytoplasmic adaptor protein that plays a pivotal role in neuromuscular junction (NMJ) development and function. It primarily acts by activating muscle-specific receptor tyrosine kinase (MuSK), a key receptor in the signaling cascade that organizes acetylcholine receptor (AChR) clustering, which is critical for synaptic transmission at the NMJ. DOK7 contains a pleckstrin homology (PH) domain and a phosphotyrosine-binding (PTB) domain that facilitate its interaction with phosphorylated receptors and downstream signaling molecules. Mutations in the DOK7 gene have been directly associated with congenital myasthenic syndrome (CMS), a disorder characterized by muscle weakness due to impaired synaptic function. These mutations often result in reduced MuSK activation and defective AChR clustering, underscoring the critical role of DOK7 in synaptic maintenance. Beyond its role in NMJ formation, emerging research suggests potential functions of DOK7 in other cellular signaling contexts, although these roles are less well understood. Its specificity for MuSK and its involvement in rare neuromuscular disorders highlight its significance in both basic biology and clinical research.
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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.
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