{"symbol":"DOK7","synonyms":["C4ORF25","CMS10"],"name":"docking protein 7","description":"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]","ncbiEntrezGeneId":285489,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/285489","proteins":[{"symbol":"DOK7_HUMAN","href":"/api/1.0/protein/DOK7_HUMAN"}],"hgncRootFamilies":[]}