Version June 2024
| Gene | Gene locus MIM# | Function | Localization of defect | Disease | Inheritance | Initial molecular characterization (PMID) |
| Interconversion of monosaccharides | ||||||
| Phosphomannomutase 2 (PMM2) | 601785 | Phosphomannomutase (converts Man-6-P to Man-1-P) | Cytosol | PMM2-CDG (CDG-Ia) | AR | 9140401 |
| Mannose phosphate isomerase (MPI) | 154550 | Phosphomannose isomerase (converts Fru-6-P to Man-6-P) | Cytosol | MPI-CDG (CDG-Ib) | AR | 9525984 |
| N-glycan lipid-linked oligosaccharide assembly | ||||||
| Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 (DPAGT1) | 191350 | GlcNAc-1-P transferase (transfers 1st GlcNAc) | ER (cytosolic side) | DPAGT1-CDG (CDG-Ij); CMS13 | AR | 12872255 |
| ALG13 UDP-N-acetylglucosaminyltransferase subunit (ALG13) | 300776 | UDP-GlcNAc transferase (transfers 2nd GlcNAc) | ER (cytosolic side) | ALG13-CDG (CDG-Is) in males; EIEE36 in females | XL | 22492991 |
| ALG14 UDP-N-acetylglucosaminyltransferase subunit (ALG14) | 612866 | UDP-GlcNAc transferase (transfers 2nd GlcNAc) | ER (cytosolic side) | CMS15 | AR | 23404334 |
| ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1) | 605907 | Beta 1-4 Man-transferase (transfers 1st mannose) | ER (cytosolic side) | ALG1-CDG (CDG-Ik) | AR | 14709599, 14973778, 14973782 |
| ALG2 alpha-1,3/1,6-mannosyltransferase (ALG2) | 607905 | Alpha 1-3/6 Man-transferase (transfers 2nd and 3rd mannoses) | ER (cytosolic side) | ALG2-CDG (CDG-Ii); CMS14 | AR | 12684507 |
| ALG11 alpha-1,2-mannosyltransferase (ALG11) | 613666 | Alpha 1-2 Man-transferase (transfers 4th and 5th mannoses) | ER (cytosolic side) | ALG11-CDG (CDG-Ip) | AR | 20080937 |
| RFT1 homolog (RFT1) | 611908 | Man5GlcNAc2-PP-Dol flippase | ER | RFT1-CDG (CDG-In) | AR | 18313027 |
| ALG3 alpha-1,3- mannosyltransferase (ALG3) | 608750 | Alpha 1-3 Man-transferase (transfers 6th mannose) | ER (luminal side) | ALG3-CDG (CDG-Id) | AR | 10581255 |
| ALG9 alpha-1,2-mannosyltransferase (ALG9) | 606941 | Alpha 1-2 Man-transferase (transfers 7th and 9th mannoses) | ER (luminal side) | ALG9-CDG (CDG-IL); Gillessen-Kaesbach-Nishimura syndrome | AR | 15148656 |
| ALG12 alpha-1,6-mannosyltransferase (ALG12) | 607144 | Alpha 1-6 Man-transferase (transfers 8th mannose) | ER (luminal side) | ALG12-CDG (CDG-Ig) | AR | 11983712 |
| ALG6 alpha-1,3-glucosyltransferase (ALG6) | 604566 | Alpha 1-3 Glc-transferase (transfers 1st glucose) | ER (luminal side) | ALG6-CDG (CDG-Ic) | AR | 10359825 |
| ALG8 alpha-1,3-glucosyltransferase (ALG8) | 608103 | Alpha 1-3 Glc-transferase (transfers 2nd glucose) | ER (luminal side) | ALG8-CDG (CDG-Ih) | AR | 12480927 |
| Glycan transfer to nascent protein | ||||||
| Tumor suppressor candidate 3 (TUSC3) | 601385 | OST subunit | ER | TUSC3-CDG (MRT7/MRT22) | AR | 18455129, 18452889 |
| Dolichyl-diphosphooligosaccharide protein glycosyltransferase noncatalytic subunit (DDOST) | 614507 | OST subunit | ER | DDOST-CDG (CDG-Ir) | AR | 22305527 |
| STT3 oligosaccharyltransferase complex catalytic subunit A (STT3A) | 601134 | OST subunit | ER | SST3A-CDG (CDG-Iw) | AR | 23842455 |
| STT3 oligosaccharyltransferase complex catalytic subunit B (STT3B) | 608605 | OST subunit | ER | SST3B-CDG (CDG-Ix) | AR | 23842455 |
| Oligosaccharyltransferase complex noncatalytic subunit (OSTC) | 619023 | OST subunit | ER | OSTC-CDG | AR | 32267060 |
| Magnesium transporter 1 (MAGT1) | 300715 | OST subunit | ER | XMEN | XL | 21796205 |
| Signal sequence receptor subunit 3 (SSR3) | 606213 | Translocon-associated protein, gamma subunit | ER | SSR3-CDG | AR | 30945312 |
| Signal sequence receptor subunit 4 (SSR4) | 300090 | Translocon-associated protein, delta subunit | ER | SSR4-CDG (CDG-Iy) | XL | 24218363 |
| N-glycan processing | ||||||
| Mannosyl-oligosaccharide glucosidase (MOGS) | 601336 | Alpha 1-2 glucosidase I (removes glucose from Glc3Man9GlcNAc2) | ER | MOGS-CDG (CDG-IIb) | AR | 10788335 |
| Glucosidase II alpha subunit (GANAB) | 104160 | Alpha 1-3 glucosidase II subunit alpha (removes last two glucose from Glc2Man9GlcNAc2) | ER | Polycystic kidney disease 3 | AD | 27259053 |
| Protein kinase C substrate 80K-H (PRKCSH) | 177060 | Alpha 1-3 glucosidase II subunit beta (removes last two glucose from Glc2Man9GlcNAc2) | ER | Polycystic liver disease 1 | AD | 12529853, 12577059 |
| Mannosidase alpha class 1B member 1 (MAN1B1) | 604346 | Alpha 1-2 mannosidase I (removes mannose from Man9GlcNAc2 and converting it to Man8GlcNAc2 isomer B) | ER | MAN1B1-CDG (MRT15) | AR | 21763484 |
| Mannosidase alpha class 2B member 2 (MAN2B2) | 618899 | Alpha 1-6 core-specific mannosidase (removes mannose from Man3GlcNAc2) | Lysosomal | MAN2B2-CDG | AR | 31775018 |
| Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (MGAT2) | 602616 | Beta 1-2 GlcNAc-transferase II (transfers N-acetylglucosamine to GlcNAcMan3GlcNAc2) | Medial-Golgi | MGAT2-CDG (CDG-IIa) | AR | 8808595 |
| Beta-1,4-galactosyltransferase 1 (B4GALT1) | 137060 | Beta 1-4 Gal-transferase (transfers galactose to either arm of GlcNAc2Man3GlcNAc2) | Trans-Golgi | B4GALT1-CDG (CDG-IId) | AR | 11901181 |
| Fucosyltransferase 8 (FUT8) | 602589 | Alpha 1-6 Fuc-transferase (adds core fucose) | Golgi | FUT8-CDG | AR | 29304374 |
| Fucose kinase (FUK) | 608675 | Fucokinase (converts L-fucose to fucose-1-phosphate) | Cytosol | FUK-CDG | AR | 30503518 |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
