CPS1 carbamoyl-phosphate synthase 1
Gene ID: 1373, updated on 9-Dec-2024Gene type: protein coding
Also known as: PHN; GATD6; CPSASE1
- See all available tests in GTR for this gene
- Go to complete Gene record for CPS1
- Go to Variation Viewer for CPS1 variants
Summary
The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. GeneReviews: Not available | |
| Congenital hyperammonemia, type I | See labs |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic determinants influencing human serum metabolome among African Americans. GeneReviews: Not available | |
| Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. GeneReviews: Not available | |
| Genome-wide association study of body mass index in 23 000 individuals with and without asthma. GeneReviews: Not available | |
| Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. GeneReviews: Not available | |
| Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke. GeneReviews: Not available | |
| Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available | |
| Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. GeneReviews: Not available | |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available | |
| Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. GeneReviews: Not available | |
| Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. GeneReviews: Not available | |
| Pulmonary hypertension, neonatal, susceptibility to | See labs |
Genomic context
- Location:
- 2q34
- Sequence:
- Chromosome: 2; NC_000002.12 (210477685..210679107)
- Total number of exons:
- 43
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CPS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Carbamoyl-Phosphate Synthetase 1 (CPS1) @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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