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Carbamoyl-phosphate synthase 1, mitochondrial

Carbamoyl-Phosphate Synthase
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] (from NCBI)
Papers on Carbamoyl-Phosphate Synthase
Human carbamoyl phosphate synthetase I (CPSI): insights on the structural role of the unknown function domains.
Azevedo et al., Porto, Portugal. In Biochem Biophys Res Commun, 2012
the human CPS unknown function domains are spatially located in a region that corresponds to the a/b subunits interface in Escherichia coli CPS. [Review]
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
Morrone et al., Florence, Italy. In Gene, 2012
Mutation analysis in these patients identified 17 genetic lesions, 9 of which were new confirming their "private" nature.
Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
Jeffrey et al., Australia. In Liver Transpl, 2011
Case Report: Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
Summar et al., Z├╝rich, Switzerland. In Hum Mutat, 2011
This is the first large-scale report of CPS1 mutations spanning a wide variety of molecular defects highlighting important regions in this protein.
DNA methylation suppresses expression of the urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) in human hepatocellular carcinoma.
Liu et al., Gainesville, United States. In Am J Pathol, 2011
DNA methylation is a key mechanism of silencing CPS1 expression in human hepatocellular carcinoma cells.
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