Ornithine Transcarbamylase - From Structure to Metabolism: An Update.

Autor:	Couchet M; Université Grenoble Alpes, Inserm U1055, Laboratory of Fundamental and Applied Bioenergetics, Grenoble, France., Breuillard C; Université Grenoble Alpes, Inserm U1055, Laboratory of Fundamental and Applied Bioenergetics, Grenoble, France., Corne C; Centre Hospitalier Université Grenoble Alpes, Grenoble, France., Rendu J; Centre Hospitalier Université Grenoble Alpes, Grenoble, France., Morio B; CarMeN Laboratory, INSERM U1060, INRAE U1397, Lyon, France., Schlattner U; Université Grenoble Alpes, Inserm U1055, Laboratory of Fundamental and Applied Bioenergetics, Grenoble, France.; Institut Universitaire de France, Paris, France., Moinard C; Université Grenoble Alpes, Inserm U1055, Laboratory of Fundamental and Applied Bioenergetics, Grenoble, France.
Jazyk:	angličtina
Zdroj:	Frontiers in physiology [Front Physiol] 2021 Oct 01; Vol. 12, pp. 748249. Date of Electronic Publication: 2021 Oct 01 (Print Publication: 2021).
DOI:	10.3389/fphys.2021.748249
Abstrakt:	Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a ubiquitous enzyme found in almost all organisms, including vertebrates, microorganisms, and plants. Anabolic, mostly trimeric OTCs catalyze the production of L-citrulline from L-ornithine which is a part of the urea cycle. In eukaryotes, such OTC localizes to the mitochondrial matrix, partially bound to the mitochondrial inner membrane and part of channeling multi-enzyme assemblies. In mammals, mainly two organs express OTC: the liver, where it is an integral part of the urea cycle, and the intestine, where it synthesizes citrulline for export and plays a major role in amino acid homeostasis, particularly of L-glutamine and L-arginine. Here, we give an overview on OTC genes and proteins, their tissue distribution, regulation, and physiological function, emphasizing the importance of OTC and urea cycle enzymes for metabolic regulation in human health and disease. Finally, we summarize the current knowledge of OTC deficiency, a rare X-linked human genetic disorder, and its emerging role in various chronic pathologies. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2021 Couchet, Breuillard, Corne, Rendu, Morio, Schlattner and Moinard.)
Databáze:	MEDLINE
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