Protein Dok-7 (DOK7) Antibody

Background

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.