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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CPS1BA-20-REGO | 20 (40 μL) | 200 μL |
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| CPS1BA-20-REGR | 20 (40 μL) | 200 μL |
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| CPS1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| CPS1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| CPS1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| CPS1BA-20-GROR | 20 (40 μL) | 200 μL |
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| CPS1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| CPS1BA-20-AQOR | 20 (40 μL) | 200 μL |
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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 Symbol : CPS1
Gene Name : Carbamoyl-phosphate synthase 1
Chromosome : CHR 2: 210,477,681-210,679,106
Locus : 2q34
Alt. Genes : SGK2
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