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Article

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.

Human mutation - 1 Jan 2009

Mitchell Sabrina, Ellingson Clint, Coyne Thomas, Hall Lynn, Neill Meaghan, Christian Natalie, Higham Catherine, Dobrowolski Steven F, Tuchman Mendel, Summar Marshall

Abstract excerpt

The urea cycle is the primary means of nitrogen metabolism in humans and other ureotelic organisms. There are five key enzymes in the urea cycle: carbamoyl-phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), argininosuccinate synthetase (ASS1), argininosuccinate lyase (ASL), and arginase 1 (ARG1). Additionally, a sixth enzyme, N-acetylglutamate synthase (NAGS), is critical for urea cycle function,...

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Source

Identifiers

PMID: 18666241
DOI: 10.1002/humu.20813

Genes

CPS1
NAGS
ARG1
ASL
ASS1
OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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