DISEASES

Disease-gene associations mined from literature

Literature associating DOK7 and congenital myasthenic syndrome 5

DOK7 [ENSP00000344432]

Downstream of tyrosine kinase 7; Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.

Synonyms:  DOK7,  DOK7p,  hDOK7,  LOC102724043,  Q18PE1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM