Dok-7 Polyclonal Antibody

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.,function: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.,similarity:Contains 1 IRS-type PTB domain.,similarity:Contains 1 PH domain.,subcellular location:Accumulates at neuromuscular junctions.,subunit:Interacts with the cytoplasmic part of MUSK.,tissue specificity:Preferentiall eypressed in skeletal muscle and heart Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).,