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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 |
|---|---|---|---|
| 84342 | COG8 | component of oligomeric golgi complex 8 | |
| 85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase | |
| 91869 | RFT1 | RFT1 homolog | |
| 91949 | COG7 | component of oligomeric golgi complex 7 | |
| 93210 | PGAP3 | post-GPI attachment to proteins phospholipase 3 | |
| 197258 | FCSK | fucose kinase | |
| 201595 | STT3B | STT3 oligosaccharyltransferase complex catalytic subunit B | |
| 440138 | ALG11 | ALG11 alpha-1,2-mannosyltransferase | |
| 644974 | ALG1L2 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 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
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y2D2 | UDP-N-acetylglucosamine transporter | |
| Q9Y2G5 | GDP-fucose protein O-fucosyltransferase 2 | |
| Q9Y2V7 | Conserved oligomeric Golgi complex subunit 6 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 | |
| Q9Y672 | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase |
