CPS1

(redirected from carbamoyl-phosphate synthetase 1, mitochondrial)

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
The urea cycle consists of 6 nuclear genome-encoded enzymes, 3 of which are located in the mitochondrial matrix: CPS1 [7] (carbamoyl-phosphate synthetase 1, mitochondrial), NAGS (N-acetylglutamate synthase), and OTC (ornithine carbamoyltransferase).
[5] Human genes: DMD, dystrophin (muscular dystrophy, Duchenne and Becker types); GLDC glycine dehydrogenase (decarboxylating); SLC25A13, solute carrier family 25, member 13 (citrin); ARC811, ATP-binding cassette, sub-family B (MDR/TAP), member 11; ATP881, ATPase, class I, type 8B, member 1; OTC, ornithine carbamoyltransferase; CPS1, carbamoyl-phosphate synthetase 1, mitochondrial; CY88, cytochrome b-245, beta polypeptide (chronic granulomatous disease); XK, X-linked Kx blood group (McLeod syndrome); RPGR, retinitis pigmentosa GTPase regulator; MECP2, methyl CpG binding protein 2 (Rett syndrome); A551, argininosuccinate synthetase 1; ASL, argininosuccinate lyase; ARC84, ATP-binding cassette, sub-family B (MDR/TAP), member 4.