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Reactivity | Human Mouse |
Tested applications | WB |
Recommended Dilution | WB 1:500 - 1:2000 |
Calculated MW | 53kDa |
Observed MW | Refer to figures |
Immunogen | A synthetic peptide of human DOK7 |
Storage Buffer | Store at 4℃. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Synonym | CMS10; CMS1B; C4orf25 |
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.
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