Table 1.
Overview of mutated genes and respective proteins involved in some CDG. The gene identification number (ID) is taken from the Gene database of NCBI.
| Gene (Gene ID) | Protein | Disorder |
|---|---|---|
| ALG2 (85365) | alpha-1,3/1,6-mannosyltransferase | ALG2-CDG |
| ALG13 (79868) | UDP-N-acetylglucosaminyltransferase (subunit) | ALG13-CDG |
| B4GALT1 (2683) | beta-1,4-galactosyltransferase 1 | B4GALT1-CDG |
| CAD (790) | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (enzyme complex) | CAD-CDG |
| COG4 (25839) | component of oligomeric golgi complex 4 | COG4-CDG |
| COG5 (10466) | component of oligomeric golgi complex 5 | COG5-CDG |
| COG7 (91949) | component of oligomeric golgi complex 7 | COG7-CDG |
| DPAGT1 (1798) | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | DPAGT1-CDG |
| EXT1 (2131) | exostosin glycosyltransferase 1 | EXT1-CDG |
| EXT2 (2132) | exostosin glycosyltransferase 2 | EXT2-CDG |
| FUT8 (2530) | fucosyltransferase 8 | FUT8-CDG |
| GMPPB (29925) | GDP-mannose pyrophosphorylase B | GMPPB-CDG |
| GNE (10020) | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | GNE-CDG |
| MAGT1 (84061) | magnesium transporter 1 | MAGT1-CDG |
| MOGS (7841) | mannosyl-oligosaccharide glucosidase | MOGS-CDG |
| MPI (4351) | mannose phosphate isomerase | MPI-CDG |
| NANS (54187) | N-acetylneuraminate synthase | NANS-CDG |
| PGM1 (5236) | phosphoglucomutase 1 | PGM1-CDG |
| PGM3 (5238) | phosphoglucomutase 3 | PGM3-CDG |
| PIGA (5277) | phosphatidylinositol glycan anchor biosynthesis class A | PIGA-CDG |
| PMM2 (5373) | phosphomannomutase 2 | PMM2-CDG |
| SLC35C1 (55343) | solute carrier family 35 member C1 | SLC35C1-CDG |
| SLC39A8 (64116) | solute carrier family 39 member 8 | SLC39A8-CDG |
| SRD5A3 (79644) | steroid 5 alpha-reductase 3 | SRD5A3-CDG |
| ST3GAL3 (6487) | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | ST3GAL3-CDG |
| ST3GAL4 (6484) | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | ST3GAL4-CDG |
| ST3GAL5 (8869) | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | ST3GAL5-CDG |