Gene Symbol | DOK7 |
Entrez Gene ID | 285489 |
Full Name | docking protein 7 |
Synonyms | C4orf25,CMS10,CMS1B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Myasthenic syndrome, congenital, 10, 254300 (3); ?Fetal akinesia deformation sequence, 208150 (3) |