C216063Level 5
DOK7 wt Allele
**Semantic type:** Gene or Genome
**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).
**Synonyms:** - C4orf25 - CMS10 - CMS1B - Chromosome 4 Open Reading Frame 25 Gene - Docking Protein 7 wt Allele - Dok-7 - Downstream of Tyrosine Kinase 7 Gene - FADS3 - FLJ33718 - FLJ39137
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