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congenital disorder of glycosylation
Summary
- Synonym
-
- carbohydrate-deficient glycoprotein syndrome
- Definition
- A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
- Super Class
- carbohydrate metabolic disorder physical disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2530 | FUT8 | fucosyltransferase 8 | |
| 2683 | B4GALT1 | beta-1,4-galactosyltransferase 1 | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 3703 | STT3A | STT3 oligosaccharyltransferase complex catalytic subunit A | |
| 4121 | MAN1A1 | mannosidase alpha class 1A member 1 | |
| 4247 | MGAT2 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
| 4351 | MPI | mannose phosphate isomerase | |
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5238 | PGM3 | phosphoglucomutase 3 | |
| 5373 | PMM2 | phosphomannomutase 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 36585 | beta4GalNAcTA | beta1,4-N-acetylgalactosaminyltransferase A | |
| 37754 | Alg3 | ALG3, alpha-1,3- mannosyltransferase | |
| 39436 | Pmm2 | Phosphomannomutase type 2 | |
| 41104 | ATP6AP2 | ATPase H+ transporting accessory protein 2 | |
| 42146 | Alg1 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 334161 | alg1 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | |
| 550425 | b4galt1 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | |
| 553725 | alg3 | ALG3 alpha-1,3- mannosyltransferase | |
| 768123 | b4galt1l | DP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, like |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 549418 | b4galt1.2 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 | Xenopus tropicalis (tropical clawed frog) | |
| 594994 | alg1 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | Xenopus tropicalis (tropical clawed frog) | |
| 100127746 | alg3 | ALG3, alpha-1,3- mannosyltransferase | Xenopus tropicalis (tropical clawed frog) | |
| 100145518 | b4galt1.1 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 | Xenopus tropicalis (tropical clawed frog) | |
| 108706812 | b4galt1.1.S | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 S homeolog | Xenopus laevis (African clawed frog) | |
| 108706813 | b4galt1.2.S | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 S homeolog | Xenopus laevis (African clawed frog) | |
| 108712215 | b4galt1.1.L | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 108712216 | b4galt1.2.L | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 L homeolog | Xenopus laevis (African clawed frog) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 175065 | algn-3 | Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase | |
| 175920 | algn-1 | Chitobiosyldiphosphodolichol beta-mannosyltransferase | |
| 178364 | F52B11.2 | putative phosphomannomutase | |
| 190668 | bre-4 | Beta-1,4-N-acetylgalactosaminyltransferase bre-4 |
Related Glycoprotein
