Diseases associated with N-glycosylation of proteins
Cylwik B, Lipartowska K, Chrostek L, Gruszewska E. Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation. Acta Biochim Pol. 2013 Sep 19;60(3). doi: 10.18388/abp.2013_1993.; Hennet T. Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochimica et Biophysica Acta (BBA) - General Subjects. 2012 Sep;1820(9):1306–17. doi: 10.1016/j.bbagen.2012.02.001.; Marquardt T, Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. European Journal of Pediatrics. 2003 Mar 15;162(6):359–79. doi: 10.1007/s00431-002-1136-0.; Grunewald S, Matthijs G, Jaeken J. Congenital disorders of glycosylation: a review. Pediatr Res. 2002 Nov;52(5):618–24. doi: 10.1203/00006450-200211000-00003. PMID: 12409504.
Metabolites
Enzyme
| EC Number | name | full name | note |
|---|---|---|---|
| 2.4.1.- | |||
| 2.4.1.141 | N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase | UDP-N-acetyl-D-glucosamine:N-acetyl-D-glucosaminyl-diphosphodolichol N-acetyl-D-glucosaminyltransferase | |
| 2.4.1.22 | lactose synthase | UDP-galactose:D-glucose 4-beta-D-galactosyltransferase | |
| 2.4.1.275 | neolactotriaosylceramide beta-1,4-galactosyltransferase | UDP-alpha-D-galactose:N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1beta4)-beta-D-glucosyl-(1<->1)-ceramide 4-beta-D-galactosyltransferase | |
| 2.4.1.38 | beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase | UDP-galactose:N-acetyl-beta-D-glucosaminylglycopeptide 4-beta-galactosyltransferase | |
| 2.4.1.90 | N-acetyllactosamine synthase | UDP-galactose:N-acetyl-D-glucosamine 4-beta-D-galactosyltransferase | |
| 3.2.1.23 | beta-galactosidase | beta-D-galactoside galactohydrolase | |
| 3.4.16.5 | carboxypeptidase C |
Proteins
| Protein ID | name | full name |
|---|