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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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Protein Aliases: Downstream of tyrosine kinase 7; Protein Dok-7
Gene Aliases: C4orf25; CMS10; CMS1B; DOK7
UniProt ID: (Human) Q18PE1
Entrez Gene ID: (Human) 285489
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