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primary hyperoxaluria
Summary
- Definition
- A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
- Super Class
- carbohydrate metabolic disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 189 | AGXT | alanine--glyoxylate aminotransferase | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
| 7358 | UGDH | UDP-glucose 6-dehydrogenase | |
| 9380 | GRHPR | glyoxylate and hydroxypyruvate reductase | |
| 9563 | H6PD | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 51084 | CRYL1 | crystallin lambda 1 | |
| 51179 | HAO2 | hydroxyacid oxidase 2 | |
| 54363 | HAO1 | hydroxyacid oxidase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60701 | UDP-glucose 6-dehydrogenase | |
| O95479 | GDH/6PGL endoplasmic bifunctional protein | |
| P07741 | Adenine phosphoribosyltransferase | |
| Q86XE5 | 4-hydroxy-2-oxoglutarate aldolase, mitochondrial | |
| Q9UBQ7 | Glyoxylate reductase/hydroxypyruvate reductase | |
| Q9Y2S2 | Lambda-crystallin homolog |
