CPS1
Metabolic System · Amino Acid Catabolism & Nitrogen Clearance
Why is CPS1 important for preventing ammonia buildup?
CPS1 makes an enzyme that participates in the urea cycle. This pathway disposes of excess nitrogen before it accumulates as harmful ammonia.
- Common Gene Name
- carbamoyl-phosphate synthase 1
- NCBI Gene ID
- 1373
- Chromosome
- 2
Clinical Evidence Status
Actionability report availableEstablished disease relationshipTumor or drug-label biomarker context
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (6 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| carbamoyl phosphate synthetase I deficiency disease | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2018-10-12 |
| Carbamoyl phosphate synthetase I deficiency | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2006-08 | |
| Carbamoylphosphate synthetase 1 (CPS1) deficiency | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2024-03-24 |
| Carbamoylphosphate synthetase 1 (CPS1) deficiency | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2024-03-24 |
| Glycerol Phenylbutyrate (1) | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Inborn Errors of Metabolism | View source |
| Sodium Phenylbutyrate | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Inborn Errors of Metabolism | View source |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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