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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. Protein function: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. [The UniProt Consortium]
Keywords:
Anti-CPS1, Anti-CPSase I, Anti-Carbamoyl-phosphate synthetase I, Anti-Carbamoyl-phosphate synthase [ammonia], mitochondrial, CPS1 Polyclonal Antibody
This website uses cookies, which are necessary for the technical operation of the website and are always set. Other cookies, which increase the usability of this website, serve for direct advertising or simplify interaction with other websites and social networks, will only be used with your consent.
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