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citrullinemia
Summary
- Synonym
-
- ASS deficiency
- deficiency of citrulline-aspartate ligase
- Definition
- An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
- Super Class
- urea cycle disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 51 | ACOX1 | acyl-CoA oxidase 1 | |
| 414 | ARSD | arylsulfatase D | |
| 2678 | GGT1 | gamma-glutamyltransferase 1 | |
| 2820 | GPD2 | glycerol-3-phosphate dehydrogenase 2 | |
| 8604 | SLC25A12 | solute carrier family 25 member 12 | |
| 10165 | SLC25A13 | solute carrier family 25 member 13 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19440 | Glutathione hydrolase 1 proenzyme | |
| P43304 | Glycerol-3-phosphate dehydrogenase, mitochondrial | |
| P51689 | Arylsulfatase D | |
| Q15067 | Peroxisomal acyl-coenzyme A oxidase 1 |
