Version June 2024
| Gene | Gene locus MIM# | Function | Localization of defect | Disease | Inheritance | Initial molecular characterization (PMID) |
| Monosaccharide synthesis | ||||||
| Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) | 138292 | Glutamine:F6P amidotransferase (converts F6P to GlcN-6P for UDP-GlcNAc synthesis) | Cytosol | CMS12 | AR | 21310273 |
| Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) | 603824 | UDP-GlcNAc 2-epimerase/ManNAc kinase (converts UDP-GlcNAc to ManNAc and then to ManNac-6P) | Cytosol | GNE myopathy, sialuria | AR, AD | 11528398, 10330343 |
| N-acetylneuraminate synthase (NANS) | 605202 | Converts ManNac-6P to Neu5Ac-9P | Cytosol | SEMD, Camera-Genevieve type | AR | 27213289 |
| N-acetylneuraminate pyruvate lyase (NPL) | 611412 | Recycles sialic acid to ManNAc | Cytosol | N-acetylneuraminate pyruvate lyase deficiency | AR | 30568043 |
| Monosaccharide interconversion | ||||||
| Phosphoglucomutase 1 (PGM1) | 612934 | Phosphoglucomutase (reversible conversion of Glc-1P to Glc-6P) | Cytosol | PGM1-CDG (CDG-It) | AR | 19625727 |
| Glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1) | 616510 | Glucosamine-phosphate N-acetyltransferase (converts GlcN-6P to GlcNAc-6P) | Cytosol | GNPNAT1-CDG | AR | 32591345 |
| Phosphoglucomutase 3 (PGM3) | 172100 | Reversible conversion of GlcNAc-6P to GlcNAc-1P | Cytosol | Immunodeficiency 23 | AR | 24589341, 24698316, 24931394 |
| Glucose-6-phosphatase catalytic subunit 3 (G6PC3) | 611045 | Glucose-6-phosphatase (Glc-6P to Glc) | ER | Severe congenital neutropenia 4 | AR | 19118303 |
| Dolichol biosynthesis | ||||||
| Dehydrodolichyl diphosphate synthase subunit (DHDDS) | 608172 | Cis-isoprenyl transferase | ER (cytosolic side) | Retinitis pigmentosa 59 | AR, AD | 21295283 |
| NUS1 dehydrodolichyl diphosphate synthase subunit (NUS1) | 610463 | Stabilizes cis-isoprenyl transferase | ER | NUS1-CDG (CDG-Iaa) | AR, AD | 25066056 |
| Steroid 5 alpha-reductase 3 (SRD5A3) | 611715 | Polyprenol reductase | ER | SRD5A3-CDG (CDG-Iq) | AR | 20637498 |
| Dolichol kinase (DOLK) | 610746 | Dolichol kinase | ER | DOLK-CDG (CDG-Im) | AR | 17273964 |
| Dolichol-P-sugar biosynthesis and utilization | ||||||
| Dolichyl-phosphate mannosyltransferase subunit 1, catalytic (DPM1) | 603503 | Dol-P-Man synthase | ER (cytosolic side) | DPM1-CDG (CDG-Ie) | AR | 10642597, 10642602 |
| Dolichyl-phosphate mannosyltransferase subunit 2, regulatory (DPM2) | 603564 | Dol-P-Man synthase | ER | DPM2-CDG (CDG-Iu) | AR | 23109149 |
| Dolichyl-phosphate mannosyltransferase subunit 3, regulatory (DPM3) | 605951 | Dol-P-Man synthase | ER | DPM3-CDG (CDG-Io) | AR | 19576565 |
| Mannose-P-dolichol utilization defect 1 (MPDU1) | 604041 | Dol-P-sugar availability | ER | MPDU1-CDG (CDG-If) | AR | 11733564 |
| Nucleotide-sugar synthesis and interconversion | ||||||
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD) | 114010 | First 3 enzymes in pyrimidine biosynthesis | Cytosol | CAD-CDG (CDG-Iz, EIEE50) | AR | 25678555 |
| GDP-mannose pyrophosphorylase A (GMPPA) | 615495 | Regulatory role or GMPPB | Cytosol | Intellectual disability, alacrima, and achalasia syndrome | AR | 24035193 |
| GDP-mannose pyrophosphorylase B (GMPPB) | 615320 | Synthesizes GDP-mannose from Man-1P and GTP | Cytosol | MDDGA14, MDDGB14, MDDGC14 | AR | 23768512 |
| UDP-glucose pyrophosphorylase 2 (UGP2) | 191760 | UDP-Glc pyrophosphorylase 2 (converts Glc-1P to UDP-Glc) | Cytosol | UGP2-CDG | AR | 31820119 |
| UDP-glucose 6-dehydrogenase (UGDH) | 603370 | UDP-Glc dehydrogenase (converts UDP-Glc to UDP-GlcA) | Cytosol | UGDH-CDG | AR | 32001716 |
| Transporters | ||||||
| Solute carrier family 10 member 7 (SLC10A7) | 611459 | Calcium transport | Plasma membrane | SLC10A7-CDG | AR | 30082715 |
| Solute carrier family 35 member A1 (SLC35A1) | 605634 | CMP-Sia transport | Golgi | SLC35A1-CDG (CDG-IIf) | AR | 15576474 |
| Solute carrier family 35 member A2 (SLC35A2) | 314375 | UDP-galactose transport | Golgi | SLC35A2-CDG (EIEE22) | XL | 23561849 |
| Solute carrier family 35 member A3 (SLC35A3) | 605632 | UDP-GlcNAc transport | Golgi | SLC35A3-CDG | AR | 24031089 |
| Solute carrier family 35 member C1 (SLC35C1) | 605881 | GDP-fucose transport | Golgi | SLC35C1-CDG (CDG-IIc) | AR | 11326279 |
| Solute carrier family 35 member D1 (SLC35D1) | 610804 | UDP-GlcA/UDP-GalNAc transport | Golgi | Schneckenbecken dysplasia | AR | 17952091 |
| Solute carrier family 39 member 8 (SLC39A8) | 608732 | Cation transporter | Plasma membrane | SLC39A8-CDG (CDG-IIn) | AR | 26637978, 26637979 |
| Vesicular trafficking | ||||||
| Component of oligomeric Golgi complex 1 (COG1) | 606973 | Golgi-to-ER retrograde transport | Vesicular membrane/cytosol | COG1-CDG (CDG-IIg) | AR | 16537452 |
| Component of oligomeric Golgi complex 2 (COG2) | 606974 | Golgi-to-ER retrograde transport | Vesicular membrane/cytosol | COG2-CDG (CDG-IIq) | AR | 24784932 |
| Component of oligomeric Golgi complex 4 (COG4) | 606976 | Golgi-to-ER retrograde transport | Vesicular membrane/cytosol | COG4-CDG (CDG-IIj, AR), Saul-Wilson syndrome (AD) | AR, AD | 19494034 |
| Component of oligomeric Golgi complex 5 (COG5) | 606821 | Golgi-to-ER retrograde transport | Vesicular membrane/cytosol | COG5-CDG (CDG-IIi) | AR | 19690088 |
| Component of oligomeric Golgi complex 6 (COG6) | 606977 | Golgi-to-ER retrograde transport | Vesicular membrane/cytosol | COG6-CDG (CDG IIL), Shaheen syndrome | AR | 20605848 |
| Component of oligomeric Golgi complex 7 (COG7) | 606978 | Golgi-to-ER retrograde transport | Vesicular membrane/cytosol | COG7-CDG (CDG-IIe) | AR | 15107842 |
| Component of oligomeric Golgi complex 8 (COG8) | 606979 | Golgi-to-ER retrograde transport | Vesicular membrane/cytosol | COG8-CDG (CDG-IIh) | AR | 17220172 |
| COPI coat complex subunit alpha (COPA) | 601924 | COP-I subunit alpha (Golgi-to-ER transport) | Vesicular membrane/cytosol | Autoimmune interstitial lung, joint, and kidney disease | AD | 25894502 |
| COPI coat complex subunit beta 2 (COPB2) | 606990 | COP-I subunit beta-2 (Golgi-to-ER transport) | Vesicular membrane/cytosol | Primary microcephaly | AR | 29036432 |
| Archain 1 (ARCN1) | 600820 | COP-I subunit delta (Golgi-to-ER transport) | Vesicular membrane/cytosol | Rhizomelic short stature with microcephaly, micrognathia, and developmental delay | AD | 27476655 |
| Sec23 homolog A, COPII coat complex component (SEC23A) | 610511 | COPII component (ER-to-Golgi transport) | Vesicular membrane/cytosol | Craniolenticulosutural dysplasia (Boyadjiev-Jabs syndrome) | AR | 16980979 |
| SEC23 homolog B, COPII coat complex component (SEC23B) | 610512 | COPII component (ER-to-Golgi transport) | Vesicular membrane/cytosol | Congenital dyserythropoietic anemia type II; Cowden syndrome 7 | AR, AD | 19561605, 19621418, 26522472 |
| SEC24 homolog D, COPII coat complex component (SEC24D) | 607186 | COPII component (ER-to-Golgi transport) | Vesicular membrane/cytosol | Cole-Carpenter syndrome 2 | AR | 25683121 |
| Secretion-associated Ras-related GTPase 1B (SAR1B) | 607690 | COPII GTPase (ER-to-Golgi transport) | Vesicular membrane/cytosol | Chylomicron retention disease | AR | 12692552 |
| Thyroid hormone receptor interactor 11 (TRIP11) | 604505 | Anterograde and retrograde transport | cis-Golgi | Achondrogenesis IA; odontochondrodysplasia | AR | 20089971 |
| Trafficking protein particle complex 2 (TRAPPC2) | 300202 | Subunit of TRAPP tethering complex | Vesicular membrane/cytosol | SED tarda | XL | 10431248 |
| Trafficking protein particle complex 2 like (TRAPPC2L) | 610970 | Subunit of TRAPP tethering complex | Vesicular membrane/cytosol | TRAPPC2L-CDG | AR | 31020216 |
| Trafficking protein particle complex 4 (TRAPPC4) | 610971 | Subunit of TRAPP tethering complex | Vesicular membrane/cytosol | TRAPPC4-CDG | AR | 31794024 |
| Trafficking protein particle complex 6B (TRAPPC6B) | 610397 | Subunit of TRAPP tethering complex | Vesicular membrane/cytosol | TRAPPC8B-CDG | AR | 28626029 |
| Trafficking protein particle complex 9 (TRAPPC9) | 611966 | Subunit of TRAPP tethering complex | Vesicular membrane/cytosol | MRT13 | AR | 20004763, 20004764, 20004765 |
| Trafficking protein particle complex 11 (TRAPPC11) | 614138 | Subunit of TRAPP tethering complex | Vesicular membrane/cytosol | LGMD2S | AR | 23830518 |
| Trafficking protein particle complex 12 (TRAPPC12) | 614139 | Subunit of TRAPP tethering complex | Vesicular membrane/cytosol | TRAPPC12-CDG | AR | 28777934 |
| Golgi SNAP receptor complex member 2 (GOSR2) | 604027 | Subunit of SNARE family of vesicle docking proteins | Vesicular membrane/cytosol | GOSR2-CDG | AR | 21549339 |
| Golgi homeostasis | ||||||
| ATPase H+ transporting V0 subunit a2 (ATP6V0A2) | 611716 | pH (subunit of vacuolar ATPase) | Vacuolar membrane | AR cutis laxa type IIA (wrinkly skin syndrome) | AR | 18157129 |
| ATPase H+ transporting accessory protein 1 (ATP6AP1) | 300197 | pH (subunit of vacuolar ATPase) | Vacuolar membrane | Immunodeficiency 47 | XL | 27231034 |
| ATPase H+ transporting accessory protein 2 (ATP6AP2) | 300556 | pH (subunit of vacuolar ATPase) | Vacuolar membrane | X-linked intellectual disability, Hedera type | XL | 15746149 |
| ATPase H+ transporting V1 subunit A (ATP6V1A) | 607027 | pH (subunit of vacuolar ATPase) | Vacuolar membrane | AR cutis laxa type IID | AR | 28065471 |
| ATPase H+ transporting V1 subunit E1 (ATP6V1E1) | 108746 | pH (subunit of vacuolar ATPase) | Vacuolar membrane | AR cutis laxa type IIC | AR | 28065471 |
| Transmembrane protein 199 (TMEM199) | 616815 | Assembly factor for vacuolar ATPase | Vacuolar membrane | TMEM199-CDG (CDG-IIp) | AR | 26833330 |
| Coiled-coil domain containing 115 (CCDC115) | 613734 | Assembly factor for vacuolar ATPase | Vacuolar membrane | CCDC115-CDG (CDG-Ip) | AR | 26833332 |
| Vacuolar ATPase assembly factor VMA21 (VMA21) | 300913 | Assembly factor for vacuolar ATPase | Vacuolar membrane | X-linked myopathy with excessive autophagy | XL | 23315026 |
| Transmembrane protein 165 (TMEM165) | 614726 | pH, manganese and calcium homeostasis | Golgi | TMEM165-CDG (CDG-IIk) | AR | 22683087 |
| Solute carrier family 9 member A7 (SLC9A7) | 300368 | Cation-proton exchanger | Golgi | SLC9A7-CDG | XL | 30335141 |
| Unknown | ||||||
| TDP-glucose 4,6-dehydratase (TGDS) | 616146 | TDP-Glc 4,6-dehydratase | Unknown | Catel-Manzke syndrome | AR | 25480037 |
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