| Entrez gene ID | | 285489 |
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| Official gene symbol | | DOK7 |
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| Full name | | docking protein 7 |
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| Aliases | | ,C4orf25,CMS1B,FLJ33718,FLJ39137,FLJ90556, |
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| Gene 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] |
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| Location | | Chromosome: 4 Locus: 4p16.3 |
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| Gene position | | 3465033 - 3496209 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 31177 bp |
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| Gene sequence |
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| OMIM ID | | 610285 |
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