CPS1
Chr 2ARcarbamoyl-phosphate synthase 1
Also known as: CPS1D, CPSASE1, GATD6, PHN
This gene encodes carbamoyl phosphate synthetase I, a mitochondrial enzyme that catalyzes the synthesis of carbamoyl phosphate from ammonia and bicarbonate in the first committed step of the urea cycle. Mutations cause carbamoyl phosphate synthetase I deficiency, an autosomal recessive disorder that impairs the body's ability to remove excess ammonia. The pathogenic mechanism involves loss of enzyme function leading to hyperammonemia.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CPS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Pembrolizumab Plus Chemo in Neoadjuvant Treatment of Esophageal Squamous Cell Carcinoma (Eastern Cooperative Thoracic Oncology Projects 2004, ECTOP-2004)
RECRUITINGA Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH)
ACTIVE NOT RECRUITINGSolving Challenging Diagnoses Through Ultra-long Read Sequencing
ACTIVE NOT RECRUITINGParenting and CAH - 21-hydroxylase Deficiency
RECRUITINGExternal Resources
Links to major genomics databases and tools