Literature summary for 2.4.1.260 extracted from

Sturiale, L.; Bianca, S.; Garozzo, D.; Terracciano, A.; Agolini, E.; Messina, A.; Palmigiano, A.; Esposito, F.; Barone, C.; Novelli, A.; Fiumara, A.; Jaeken, J.; Barone, R.
ALG12-CDG novel glycophenotype insights endorse the molecular defect (2019), Glycoconj. J., 36, 461-472 .

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Application

Application	Comment	Organism
medicine	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	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9BV10	-	-

Synonyms

Synonyms	Comment	Organism
ALG12	-	Homo sapiens

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Release 2023.1 (January 2023)