Gene: DOK7
Alternate names for this Gene: C4orf25|CMS10|CMS1B|FADS3
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.
Gene is located in Chromosome: 4
Location in Chromosome : 4p16.3
Description of this Gene: docking protein 7
Type of Gene: protein-coding
Gene: LOC105374355
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