CPS1

Gene

carbamoyl-phosphate synthase 1

HGNCHGNC:2323 EnsemblENSG00000021826 NCBI Gene1373

Locus: gene with protein productLocation: 2q34

Encodes

via encodes

The protein product this gene encodes, reached through the canonical GENE→PROTEIN (encodes) relation. Its biology, drugs, indications, trials and therapeutic evidence live on the protein's own page.

Carbamoyl-phosphate synthase [ammonia], mitochondrialP31327

Protein · therapeutic target

Clinically validated target · 1 approved medicine against this target

Explore protein biology & therapeutics

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asGATD6

View full nomenclature history (4)

Alias symbolsGATD6

Previous namescarbamoyl-phosphate synthetase 1, mitochondrial, carbamoyl-phosphate synthase 1, mitochondrial

Alias namescarbamoyl-phosphate synthase (ammonia)

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Venous Thromboembolism

Renal Insufficiency

Kidney Failure, Chronic

Genetic Diseases, Inborn

Pulmonary arterial hypertension

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Glutamine amidotransferase class 1 domain containingATP-grasp fold containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-15.

Open TargetsGene–disease associations from the Open Targets Platform.