| Entrez gene ID | | 1373 |
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| Official gene symbol | | CPS1 |
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| Full name | | carbamoyl-phosphate synthase 1, mitochondrial |
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| Aliases | | ,CPSASE1, |
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| Gene 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. |
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| Location | | Chromosome: 2 Locus: 2q35 |
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| Gene position | | 211342409 - 211543831 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 201423 bp |
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| Gene sequence |
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| OMIM ID | | 608307 |
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