Role of C1GALT1/Cosmc in related immune diseases

C1GALT1, also known as x03B2;1, 3-galactosyltransferase or T-synthase, is a key enzyme in the process of O-glycosylation and can transfer galactose from UDP-Gal to Tn antigen(GalNAc-x03B1;-O-Ser/Thr-)to form T antigen or TF antigen(Galx03B2;1, 3GalNAc-x03B1;-O-Ser/Thr core 1 structure). Cosmc, which is a unique molecular chaperone of C1GALT1, plays a pivotal role in correct folding and activation of T-synthase.Any abnormality of C1GALT1 or Cosmc will cause changes in the activity of C1GALT1, thus affecting the O-glycosylation and eventually leading to the diseases.Increasing evidences suggest O-glycosylation is associated with autoimmune diseases, but the exact pathogenesis remains unclear.Therefore, the present review summarizes the progress on the functions of C1GALT1/Cosmc in the pathogenesis of pediatric autoimmune diaseases and tumors. Key words: C1GALT1; Cosmc; O-glycosylation; Autoimmune diseases