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.
Publication types
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Cytidine Monophosphate N-Acetylneuraminic Acid / metabolism*
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Disease Models, Animal
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Distal Myopathies / enzymology
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Distal Myopathies / genetics*
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Distal Myopathies / pathology
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Gene Expression Regulation
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Genes, Regulator*
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Humans
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Mice
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Mice, Transgenic
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Multienzyme Complexes / chemistry
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Multienzyme Complexes / genetics
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Multienzyme Complexes / metabolism*
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Mutation
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Protein Structure, Quaternary
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Sialic Acid Storage Disease / enzymology
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Sialic Acid Storage Disease / genetics*
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Sialic Acid Storage Disease / pathology
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Uridine Diphosphate N-Acetylglucosamine / metabolism*
Substances
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Multienzyme Complexes
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UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
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Cytidine Monophosphate N-Acetylneuraminic Acid
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Uridine Diphosphate N-Acetylglucosamine