Gene Symbol: Gne
Description: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Alias: Uae1, bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, UDP-GlcNAc-2-epimerase/ManAc kinase, UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase
Horstkorte R, Nöhring S, Wiechens N, Schwarzkopf M, Danker K, Reutter W, et al
. Tissue expression and amino acid sequence of murine UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase. Eur J Biochem. 1999;260:923-7 pubmed
Blume A, Benie A, Stolz F, Schmidt R, Reutter W, Hinderlich S, et al
. Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR: I. Investigation of the UDP-GlcNAc 2-epimerase functionality. J Biol Chem. 2004;279:55715-21 pubmed
..Consequently, this study provides important new data for rational drug design. ..
Ghaderi D, Strauss H, Reinke S, Cirak S, Reutter W, Lucka L, et al
. Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods. J Mol Biol. 2007;369:746-58 pubmed
The bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) is a key enzyme for the biosynthesis of sialic acids, the terminal sugars of glycoconjugates associated with a variety of physiological and ..
Hinderlich S, Stäsche R, Zeitler R, Reutter W. A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. J Biol Chem. 1997;272:24313-8 pubmed
..UDP-GlcNAc 2-epimerase was feedback inhibited by CMP-Neu5Ac. Complete inhibition was achieved with 60 microM CMP-Neu5Ac, and highly positive cooperativity (Hill coefficient of 4.1) was found for inhibitor binding. ..
Kontou M, Weidemann W, Bauer C, Reutter W, Horstkorte R. The key enzyme of sialic acid biosynthesis (GNE) promotes neurite outgrowth of PC12 cells. Neuroreport. 2008;19:1239-42 pubmed publisher
..outgrowth of PC12-cells enhances the expression of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine-kinase (GNE), the key enzyme for the biosynthesis of sialic acid...
Weidemann W, Reinhardt A, Thate A, Horstkorte R. Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy. Neuromuscul Disord. 2011;21:824-31 pubmed publisher
..It is caused by mutations of the gene encoding UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE). One of the most frequent mutations is an exchange of methionine to threonine at position 712 (M712T)...
Stäsche R, Hinderlich S, Weise C, Effertz K, Lucka L, Moormann P, et al
. A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase. J Biol Chem. 1997;272:24319-24 pubmed
..Northern blot analysis revealed no UDP-GlcNAc 2-epimerase/ManNAc kinase mRNA in the non-secreting tissues. ..
Schulz A, Litfin A, Kossmehl P, Kreutz R. Genetic dissection of increased urinary albumin excretion in the munich wistar frömter rat. J Am Soc Nephrol. 2002;13:2706-14 pubmed
..This study demonstrates the polygenetic recessive determination of increased UAE by a set of genes that are unlinked to BP. ..
Oetke C, Hinderlich S, Reutter W, Pawlita M. Epigenetically mediated loss of UDP-GlcNAc 2-epimerase/ManNAc kinase expression in hyposialylated cell lines. Biochem Biophys Res Commun. 2003;308:892-8 pubmed
..These results indicate a regulation of UDP-GlcNAc 2-epimerase/ManNAc kinase expression on the transcriptional level by DNA methylation. ..