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galactosemia
Summary
- Synonym
-
- Galactosaemia
- Galactose intolerance
- Definition
- A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
- Super Class
- carbohydrate metabolic disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2027 | ENO3 | enolase 3 | |
| 2203 | FBP1 | fructose-bisphosphatase 1 | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 2548 | GAA | alpha glucosidase | |
| 2582 | GALE | UDP-galactose-4-epimerase | |
| 2584 | GALK1 | galactokinase 1 | |
| 2592 | GALT | galactose-1-phosphate uridylyltransferase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 851974 | YPR1 | trifunctional aldehyde reductase/carbonyl reductase (NADPH)/glucose 1-dehydrogenase (NADP(+)) YPR1 | |
| 852306 | GAL7 | UDP-glucose:hexose-1-phosphate uridylyltransferase | |
| 852307 | GAL10 | bifunctional UDP-glucose 4-epimerase/aldose 1-epimerase | |
| 854287 | GCY1 | glycerol 2-dehydrogenase (NADP(+)) GCY1 | |
| 855808 | YNR071C | aldose 1-epimerase superfamily protein | |
| 856617 | YHR210C | aldose 1-epimerase superfamily protein |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14376 | UDP-glucose 4-epimerase | |
| Q16851 | UTP--glucose-1-phosphate uridylyltransferase | |
| Q16880 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | |
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | |
| Q9HAW7 | UDP-glucuronosyltransferase 1A7 | |
| Q9HAW8 | UDP-glucuronosyltransferase 1A10 | |
| Q9HAW9 | UDP-glucuronosyltransferase 1A8 | |
| Q9NQR9 | Glucose-6-phosphatase 2 |
