The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Detects a band of approximately 53 kDa (predicted molecular weight: 53 kDa).
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.
Preferentially expressed in skeletal muscle and heart Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).
Involvement in disease
Defects in DOK7 are the cause of familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]; also called congenital myasthenic syndrome type 1B or CMS1B. LGM is a congenital myasthenic syndrome characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function.