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dok7

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Official Full Name
docking protein 7
Background
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. [provided by RefSeq, Sep 2009]
Synonyms
DOK7; docking protein 7; CMS1B; C4orf25; protein Dok-7; downstream of tyrosine kinase 7; C4orf25, chromosome 4 open reading frame 25; Dok 7; FLJ33718; FLJ39137; FLJ90556