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EC Number Application Commentary Reference
Show all pathways known for 2.4.1.260Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.260medicine a patient with heterozygous variants in the ALG12 gene, c.367 G>A (G123R) and c.1439 T>C (L480P), shows serum transferrin with underoccupancy of N-glycosylation sites. Total serum proteins and IgG N-glycans show accumulating amounts of definite high-mannose and hybrid structures. ALG12-congenital disorder of glycosylation displays CDG-I and II defects and it is associated with distinct, abnormal glycosylation of total serum and IgG N-glycans 759317
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