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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Downstream of tyrosine kinase 7; oncoprotein induced transcript 5; Protein Dok-7
基因别名: A930013K19Rik; AW049091; C4orf25; CMS10; CMS1B; Dok-7; DOK7; EF-12; Oit5
UniProt ID: (Human) Q18PE1, (Mouse) Q18PE0
Entrez Gene ID: (Human) 285489, (Mouse) 231134