Literature associating DOK7 and pyruvate decarboxylase deficiency
DOK7 [ENSP00000344432]
Protein Dok-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, A0A1W2PRA3, A0A2R8Y701 ...