Docking Protein 7 (DOK7)

DOK7 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. DOK7 contains a pleckstrin homology (PH) and PTB domain in the N-terminal portion and Src homology 2 (SH2) domain target motifs in the C-terminal region. Cloning of mouse and pufferfish Dok7 cDNA revealed a highly conserved structure.