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: C4orf25; Downstream of tyrosine kinase 7; oncoprotein induced transcript 5; Protein Dok-7
Gene Aliases: A930013K19Rik; AW049091; C4orf25; CMS10; CMS1B; Dok-7; DOK7; EF-12; Oit5