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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.
Gene Name: | docking protein 7 |
Synonyms: | DOK7, CMS1B, Protein Dok-7, C4orf25, Docking protein 7, Dok-7 |
Target Sequences: | Q18PE1 Q18PE1 |
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