NCIt synonyms : C4orf25; Downstream of Tyrosine Kinase 7 Gene; FLJ33718; CMS1B; CMS10; Chromosome 4 Open Reading Frame 25 Gene; Docking Protein 7 wt Allele; FADS3; Dok-7; FLJ39137;
NCIt definition : Human DOK7 wild-type allele is located in the vicinity of 4p16.3 and is approximately
38 kb in length. This allele, which encodes protein Dok-7, plays a role in binding
and activation of muscle, skeletal receptor tyrosine-protein kinase (MUSK). Mutations
in the gene are associated with fetal akinesia deformation sequence 3 and congenital
myasthenic syndrome 10 (formerly type 1b).;
OMIM relation