CPS1


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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.
References in periodicals archive ?
A separacao espacial das quatro formulacoes sugeriu a formacao de dois grupos distintos, um grupo formado pelas amostras controle e CPS1,5 e outro formado por CPS3,0 e CPS4,5 (Figura 1a).
Dessa forma, em relacao a textura, as amostras CPS1,5 e CPS3,0 foram as mais aceitas pelos consumidores.
As formulacoes CPS1,5 e CPS3,0 foram as mais aceitas, enquanto a CPS4,5 apresentou menor aceitacao.
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).
Today, the standard approach to mutation screening for OTC, CPS1, or NAGS deficiency encompasses the sequencing of coding regions and splice sites; however, this approach detects a disease-causing mutation in only about 80% of patients with OTC deficiency (3).
With inherited UCDs as a model, we investigated a 199-kb region that encompasses the complete genomic sequences of OTC, NAGS, and CPS1. This approach enabled (a) the detection of mutations not only in coding regions but also in regulatory and intronic regions, (b) the comprehensive investigation at the genomic DNA level of a large gene comprising many exons; and (c) the simultaneous investigation of 3 genes involved in the same disease pathway.
An enzyme assay of a liver sample revealed reduced ornithine transcarbamylase (OTC) activity; mitochondrial carbamoyl-phosphate synthetase 1 (CPS1) activity was within the reference range.
The CPS1 gene was sequenced, but no mutations were found.
We did not detect CPS1 deletions in the patient of case 4, who also presented with hyperammonemia; but instead we found a deletion of the OTC gene.
(21) detected differences in melting profiles between small PCR amplicons of 46 or 55 bp, the former having a internal 9-bp deletion, derived from a CPS1 gene cDNA.
Using melting curve analysis with the LightCycler, we have succeeded in rapidly detecting a 2-bp deletion mutation in genomic DNA of a patient with Fabry disease and a 9-bp deletion mutation in cDNA of a patient with carbamoyl-phosphate synthase I (CPS1; EC 6.3.4.16) deficiency.
CPS1 deficiency is an autosomal recessive disorder caused by the deficient activity of CPS1, affecting the first enzyme step in the urea cycle.