CPS1 ist ein Gen, das durch das Symbol CPS1 kodiert wird. Andere Namen sind: Carbamoyl-phosphate synthase [ammonia], mitochondrial; Carbamoyl-phosphate synthetase I; CPSase I. CPS1 hat eine Masse von 164.94kDa, eine Aminosäurelänge von 1500, und ist an folgenden Krankheiten beteiligt: Carbamoyl phosphate synthetase 1 deficiency; Pulmonary hypertension, neonatal.
Wir bieten 16 antikörper gegen CPS1, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC and ICC/IF mit Proben abgeleitet von Human, Maus, Ratte und Hund.
Gen- und Proteininformationen
UniProt Zusammenfassung
Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.
Entrez Zusammenfassung
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.
Gewebespezifität
Primarily in the liver and small intestine.
Rolle bei Krankheiten
Carbamoyl phosphate synthetase 1 deficiency: An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation.
Pulmonary hypertension, neonatal: A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease.
Posttranslationale Modifikation
Undergoes proteolytic cleavage in the C-terminal region corresponding to the loss of approximately 12 AA residues from the C-terminus.
Zellort
Mitochondrion. Nucleus > Nucleolus.
