CPS1 Chromosome 2
Carbamoyl-phosphate synthase 1
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What This Gene Does
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]
Gene Info
Gene Group
Glutamine amidotransferase class 1 domain containing
Locus Type
gene with protein product
Location
2q34
Ensembl
ENSG00000021826
Associated Conditions (11)
Congenital hyperammonemia
type I
Inborn genetic diseases
CPS1-related disorder
Pulmonary hypertension
neonatal
susceptibility to
Intellectual disability
Uterine corpus endometrial carcinoma
Lung cancer
Hereditary breast ovarian cancer syndrome
Key Variants
RS1034733261
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Inborn genetic diseases
Health Risk
RS112199960
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Congenital hyperammonemia
Health Risk
RS114819130
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Inborn genetic diseases
Health Risk
RS1202306773
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Pulmonary hypertension
Health Risk
RS121912595
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Congenital hyperammonemia
Health Risk
RS1221447754
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Inborn genetic diseases
Health Risk
RS1245845692
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Pulmonary hypertension
Health Risk
RS1354079241
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Congenital hyperammonemia
Health Risk
RS138392504
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, CPS1-related disorder
Health Risk
RS138424013
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Pulmonary hypertension
Health Risk
RS138718997
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Congenital hyperammonemia
Health Risk
RS1392559810
Conflicting classifications of pathogenicity
Congenital hyperammonemia, type I, Congenital hyperammonemia
Health Risk
All Variants (413)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371350538 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Pulmonary hypertension |
| RS758724746 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Pulmonary hypertension |
| RS759201450 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Congenital hyperammonemia |
| RS761225695 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Pulmonary hypertension |
| RS761328915 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary hypertension, neonatal, susceptibility to |
| RS765484849 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Pulmonary hypertension |
| RS767575696 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Pulmonary hypertension |
| RS772576138 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Pulmonary hypertension |
| RS777691939 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary hypertension, neonatal, susceptibility to |
| RS778346264 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Congenital hyperammonemia |
| RS781088670 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Congenital hyperammonemia |
| RS933813349 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Pulmonary hypertension |
| RS961015305 | Health Risk | Pathogenic/Likely pathogenic | Congenital hyperammonemia, type I, Congenital hyperammonemia |