title: UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.
abstract: UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is the key enzyme of sialic acid biosynthesis in vertebrates. It catalyzes the first two steps of the cytosolic formation of CMP-N-acetylneuraminic acid from UDP-N-acetylglucosamine. In this review we give an overview of structure, biochemistry, and genetics of the bifunctional enzyme and its complex regulation. Furthermore, we will focus on diseases related to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.
authors.affiliation: Department of Life Sciences and Technology, Beuth Hochschule für Technik Berlin, University of Applied Sciences, Berlin, Germany, hinderlich@beuth-hochschule.de.
authors.forename: Stephan
authors.initials: S
authors.lastname: Hinderlich
authors.forename: Wenke
authors.initials: W
authors.lastname: Weidemann
authors.forename: Tal
authors.initials: T
authors.lastname: Yardeni
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Horstkorte
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
mesh_terms: D000818:Animals; D003569:Cytidine Monophosphate N-Acetylneuraminic Acid / Q000378:metabolism*; D004195:Disease Models, Animal; D049310:Distal Myopathies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005786:Gene Expression Regulation; D005809:Genes, Regulator; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009097:Multienzyme Complexes / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D020836:Protein Structure, Quaternary; D029461:Sialic Acid Storage Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D014537:Uridine Diphosphate N-Acetylglucosamine / Q000378:metabolism*
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase; D003569:Cytidine Monophosphate N-Acetylneuraminic Acid; D014537:Uridine Diphosphate N-Acetylglucosamine