Version June 2024
| Gene | Gene locus MIM# | Function | Localization of defect | Disease | Inheritance | Initial molecular characterization (PMID) |
| O-mannosylation | ||||||
| Protein O-mannosyltransferase 1 (POMT1) | 607423 | Protein O-Man-transferase | ER | MDDGA1, MDDGB1, MDDGC1 | AR | 12369018 |
| Protein O-mannosyltransferase 2 (POMT2) | 607439 | Protein O-Man-transferase | ER | MDDGA2, MDDGB2, MDDGC2 | AR | 15894594 |
| Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) (POMGNT1) | 606822 | Beta 1-2 GlcNAc-transferase (transfers GlcNAc to mannose in core M1) | Golgi | MDDGA3, MDDGB3, MDDGC3, RP76 | AR | 11709191 |
| Protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) (POMGNT2) | 614828 | Beta 1-4 GlcNAc-transferase (transfers GlcNAc to mannose in core M3) | ER | MDDGA8 | AR | 22958903 |
| Beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) | 610194 | Beta 1-3 GalNAc-transferase II (transfers GalNAc to GlcNAcMan in core M3) | ER | MDDGA11 | AR | 23453667 |
| Protein O-mannose kinase (POMK) | 615247 | Phosphorylates 6-position of Man after addition of GlcNAc and GalNAc | ER | MDDGA12, MDDGC12 | AR | 23519211 |
| CDP-L-ribitol pyrophosphorylase A (CRPPA) | 614631 | Synthesizes CDP-ribitol | Cytosol | MDDGA7, MDDGC7 | AR | 22522420, 22522421 |
| Fukutin (FKTN) | 607440 | Adds ribitol-5-P to GalNAcGlcNAcMan6P | Golgi | MDDGA4, MDDGB4, MDDGC4 | AR | 9690476 |
| Fukutin-related protein (FKRP) | 606596 | Adds ribitol-5-P to Rbo5PGalNAcGlcNAcMan6P | Golgi | MDDGA5, MDDGB5, MDDGC5 | AR | 11592034 |
| Ribitol xylosyltransferase 1 (RXYLT1) | 605862 | Beta 1-4 xylosyltransferase (transfers xylose to Rbo5P Rbo5PGalNAcGlcNAcMan6P) | Golgi | MDDGA10 | AR | 23217329 |
| Beta-1,4-glucuronyltransferase 1 (B4GAT1) | 605581 | Beta 1,4 glucuronyltransferase I (transfers GlcA to XylRbo5P Rbo5PGalNAcGlcNAcMan6P) | Golgi | MDDGA13 | AR | 23359570 |
| LARGE xylosyl- and glucuronyltransferase 1 (LARGE1) | 603590 | Beta 1-3 GlcA-transferase/alpha 1-3 Xyl-transferase (transfers GlcAXyl to GlcAXylRbo5P Rbo5PGalNAcGlcNAcMan6P) | Golgi | MDDGA6, MDDGB6 | AR | 12966029 |
| O-xylosylation | ||||||
| FAM20B glycosaminoglycan xylosylkinase (FAM20B) | 611063 | Glycosaminoglycan xylosylkinase | Golgi | FAM20B-CDG | AR | 30847897 |
| Xylosyltransferase 1 (XYLT1) | 608124 | Xyl-transferase 1 | Golgi | Desbuquois dysplasia type 2 | AR | 23982343 |
| Xylosyltransferase 2 (XYLT2) | 608125 | Xyl-transferase 2 | Golgi | Spondyloocular syndrome | AR | 26027496 |
| Beta-1,4-galactosyltransferase 7 (B4GALT7) | 604327 | Beta 1-4 Gal-transferase I (transfers galactose to xylose) | Golgi | Progeroid EDS 1 (Larsen of Reunion Island syndrome) | AR | 10473568, 10506123 |
| Beta-1,3-galactosyltransferase 6 (B3GALT6) | 615291 | Beta 1-3 Gal-transferase II (transfers galactose to GalXyl) | Golgi | SEMDJL Beighton type (progeroid EDS type 2) | AR | 23664117 |
| Beta-1,3-glucuronyltransferase 3 (B3GAT3) | 606374 | Beta 1-3 GlcA-transferase I (transfers GlcA to GalGalXyl to create linker tetrasaccharide) | Golgi | Larsen-like syndrome | AR | 21763480 |
| Exostosin glycosyltransferase 1 (EXT1) | 608177 | Beta 1-4 GlcA-transferase II/alpha 1-4 GlcNAc-transferase II (HS polymerase) | Golgi | Multiple hereditary exostoses type 1 | AD | 7550340 |
| Exostosin glycosyltransferase 2 (EXT2) | 608210 | Beta 1-4 GlcA-transferase II/alpha 1-4 GlcNAc-transferase II (HS polymerase) | Golgi | Multiple hereditary exostoses type 2; seizures, scoliosis and macrocephaly syndrome | AD; AR | 8782816, 26246518 |
| Exostosin-like glycosyltransferase 3 (EXTL3) | 605744 | Alpha 1-4 GlcNAc-transferase I (transfers first GlcNAc to linker for HS initiation) and II (HS elongation) | Golgi | Immunoskeletal dysplasia with neurodevelopmental abnormalities | AR | 28132690, 28148688 |
| N-deacetylase and N-sulfotransferase 1 (NDST1) | 600853 | N-deacetylates and N-sulfates GlcNAc in HS | Golgi | NDST1-CDG | AR | 25125150 |
| Heparan sulfate 6-O-sulfotransferase 1 (HS6ST1) | 604846 | Transfers sulfate to position 6 of GlcNAc in HS | Golgi | HS6ST1-CDG | AD | 21700882 |
| Heparan sulfate 6-O-sulfotransferase 2 (HS6ST2) | 300545 | Transfers sulfate to position 6 of GlcNAc in HS | Golgi | HS6ST2-CDG | XL | 30471901 |
| Chondroitin sulfate synthase 1 (CHSY1) | 608183 | Beta 1-3 GlcA-transferase/beta 1-4 GalNAc-transferase (CS elongation) | Golgi | Temtamy preaxial brachydactyly syndrome | AR | 21129728 |
| Carbohydrate sulfotransferase 3 (CHST3) | 603799 | GalNAc-6-O-sulfotransferase (CS modification) | Golgi | SED with congenital joint | AR | 15215498 |
| Carbohydrate sulfotransferase 14 (CHST14) | 608429 | GalNAc-4-O-sulfotransferase (DS modification) | Golgi | EDS musculocontractural type 1 | AR | 20004762 |
| Dermatan sulfate epimerase (DSE) | 605942 | Converts D-glucuronic acid to L-iduronic acid (DS epimerase) | Golgi | EDS musculocontractural type 2 | AR | 23704329 |
| Chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1) | 616615 | Beta 1-4 GalNAc-transferase I (transfers first GalNAc to linker for CS initiation) | Golgi | Desbuquois dysplasia | AR | 27599773 |
| Carbohydrate sulfotransferase 6 (CHST6) | 605294 | GlcNAc-6-O-sulfotransferase (KS modification) | Golgi | Macular corneal dystrophy | AR | 11017086 |
| Calcium-activated nucleotidase 1 (CANT1) | 613165 | UDP-Gal nucleotidase | ER and Golgi | Desbuquois dysplasia 1 | AR | 19853239 |
| O-GalNAcylation | ||||||
| Polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3) | 601756 | Polypeptide GalNAc-transferase | Golgi | Hyperphosphatemic familial tumoral calcinosis | AR | 15133511 |
| Polypeptide N-acetylgalactosaminyltransferase 14 (GALNT14) | 608225 | Polypeptide GalNAc-transferase | Golgi | GALNT14-CDG | AR | 26036949 |
| C1GALT1-specific chaperone 1 (C1GALT1C1) | 300611 | Chaperone for the core 1 beta 1-3 galactosyltransferase | ER | Tn polyagglutination syndrome | Somatic | 16251947 |
| O-linked GlcNAc transferase (OGT) | 300255 | O-GlcNAc transferase | Nucleus and cytosol | MRX106 | XL | 28302723, 28584052, 32080367 |
| EGF domain-specific O-linked GlcNAc transferase (EOGT) | 614789 | EGF-domain O-GlcNAc transferase | ER | Adams-Oliver syndrome 4 | AR | 23522784 |
| ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3) | 606494 | Alpha 2-3 sialyltransferase (transfers sialyl to Lewis alpha trisaccharide) | Golgi | MRT12; EIEE15 | AR | 21907012, 23252400 |
| O-glycosylation | ||||||
| Protein O-glucosyltransferase 1 (POGLUT1) | 615618 | Protein O-glucosyltransferase | ER | Dowling-Degos disease 4; LGMD2Z | AD; AR | 24387993, 27807076 |
| O-fucosylation | ||||||
| Protein O-fucosyltransferase 1 (POFUT1) | 607491 | Protein O-fucosyltransferase for EGF repeats | ER | Dowling-Degos disease 2 | AD | 23684010 |
| LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG) | 602576 | Beta 1-3 GlcNAc-transferase (transfers GlcNAc to O-fucose on EGF repeats) | Golgi | Spondylocostal dysostosis type 3 | AR | 16385447 |
| Beta 3-glucosyltransferase (B3GLCT) | 610308 | Beta 1-3 Glc-transferase (transfers Glc to O-fucose on TSR) | ER | Peters-Plus syndrome | AR | 16909395 |
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