Aliases for DOK7 Gene
External Ids for DOK7 Gene
Previous HGNC Symbols for DOK7 Gene
Previous GeneCards Identifiers for DOK7 Gene
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]
GeneCards Summary for DOK7 Gene
DOK7 (Docking Protein 7) is a Protein Coding gene. Diseases associated with DOK7 include Myasthenic Syndrome, Congenital, 10 and Fetal Akinesia Deformation Sequence. Gene Ontology (GO) annotations related to this gene include protein kinase binding and insulin receptor binding.
UniProtKB/Swiss-Prot for DOK7 Gene
Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.