DOK7, Official Symbol DOK7provided by HGNC Official Full Name docking protein 7provided by HGNC Primary source HGNC:HGNC:26594 See related Ensembl:ENSG00000175920 MIM:610285; AllianceGenome:HGNC:26594 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMS10; CMS1B; FADS3; C4orf25 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. [provided by RefSeq, Sep 2009] Expression Biased expression in heart (RPKM 3.1), testis (RPKM 1.0) and 9 other tissues See more Orthologs mouse all