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carbamoyl phosphate synthetase I deficiency disease
Summary
- Synonym
-
- CPS I deficiency
- Definition
- A urea cycle disorder that involves accumulation of ammonia in the blood.
- Super Class
- autosomal recessive disease urea cycle disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04040 | Catalase | |
| P11172 | Uridine 5'-monophosphate synthase | |
| P15104 | Glutamine synthetase | |
| P60484 | Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN |
