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

Alternate names for this Gene:

Gene Summary:

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rs1286619522 in DOK7;LOC105374355 gene and Congenital myasthenic syndrome ib PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

PMID 20603078 2010 The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.

PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 17439981 2007 Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

rs768892432 in DOK7;LOC105374355 gene and Pena-Shokeir syndrome type I PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.