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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| DOK7-20-RE | 20 (40 μL) | 200 μL |  |
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| DOK7-20-OR | 20 (40 μL) | 200 μL |  |
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| DOK7-20-GO | 20 (40 μL) | 200 μL |  |
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| DOK7-20-GR | 20 (40 μL) | 200 μL |  |
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| DOK7-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Sep 2009]
Gene Symbol : DOK7
Gene Name : Docking protein 7
Chromosome : CHR 4: 346,330,5-350,147,5
Locus : 4p16.3
Alt. Genes : ATP6AP2
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