UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis

Top Curr Chem. 2015;366:97-137. doi: 10.1007/128_2013_464.

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

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cytidine Monophosphate N-Acetylneuraminic Acid / metabolism*
  • Disease Models, Animal
  • Distal Myopathies / enzymology
  • Distal Myopathies / genetics*
  • Distal Myopathies / pathology
  • Gene Expression Regulation
  • Genes, Regulator*
  • Humans
  • Mice
  • Mice, Transgenic
  • Multienzyme Complexes / chemistry
  • Multienzyme Complexes / genetics
  • Multienzyme Complexes / metabolism*
  • Mutation
  • Protein Structure, Quaternary
  • Sialic Acid Storage Disease / enzymology
  • Sialic Acid Storage Disease / genetics*
  • Sialic Acid Storage Disease / pathology
  • Uridine Diphosphate N-Acetylglucosamine / metabolism*

Substances

  • Multienzyme Complexes
  • UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
  • Cytidine Monophosphate N-Acetylneuraminic Acid
  • Uridine Diphosphate N-Acetylglucosamine