CPS1

(redirected from carbamoyl-phosphate synthetase 1, mitochondrial)
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CPS1

A gene on chromosome 2q35 that encodes a mitochondrial enzyme which catalyses synthesis of carbamoyl phosphate from ammonia and bicarbonate, a reaction that is the first committed step of the urea cycle and important in removing excess ammonia from cells.

Molecular pathology
Defects of CPS1 cause carbamoyl phosphate synthetase deficiency, and increase susceptibility to persistent pulmonary hypertension and venoocclusive disease after bone marrow transplantation.