

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]
They are shipped out with dry ice/blue ice unless customers require otherwise
Store at -20°C PBS (pH 7.3) containing 1% BSA, 50% glycerol and 0.02% sodium azide.Stable for 12 months from date of receipt.
Liquid
PBS (pH 7.3) containing 1% BSA, 50% glycerol and 0.02% sodium azide.

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