2.7.1.60	evolution	sequence comparion and modeling of human hGNE1 and mouse mGne1 isozymmess, overview	-, 722375	
2.7.1.60	malfunction	all cases of hereditary inclusion body myopathy and distal myopathy with rimmed vacuoles are caused by mutations	705073	
2.7.1.60	malfunction	enzyme mutation affects beta1-integrin-mediated cell adhesion process	728341	
2.7.1.60	malfunction	enzyme mutations can cause sialuria and hereditary inclusion body myopathy. Sialuria patients have a heterozygous missense mutation affecting the allosteric site of GNE, leading to loss of feedback inhibition of GNE-epimerase activity by CMP-Neu5Ac, resulting in excessive sialic acid production. HIBM and its allelic Japanese disorder, distal myopathy with rimmed vacuoles, or DMRV, is an autosomal recessive neuromuscular disorder of adult onset, characterized byslowly progressive muscle weakness and atrophy	721653	
2.7.1.60	malfunction	heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations, screening study of mutant individuals, genotypes of the GNE myopathy patient population and phenotypes, overview	723028	
2.7.1.60	malfunction	mutations cause sialurea or inclusion body myopathy/Nonaka myopathy	706438	
2.7.1.60	malfunction	non-allosteric GNE gene mutations cause the muscular disorder GNE myopathy, i.e. hereditary inclusion body myopathy. Complete Gne knockout is embryonically lethal. Transgenic mice expressing the human GNE cDNA with the D176V mutation, common among Japanese patients, in a mouse background with a disrupted mouse Gne gene recapitulates the adult onset features of human GNE myopathy with hyposialylation in serum and different organs. M712T mouse mutants die within 72 h of birth from severe glomerular disease. Mouse isozyme mutant phenotypes, overview	-, 722375	
2.7.1.60	malfunction	silencing of GNE sensitizes pancreatic cancer cells to anoikis, an apoptosis program activated on loss of matrix anchorage. A loss of GNE enzyme activity in cells renders them anoikis-susceptible after transfection with the tumor suppressor p16. ManNAc incubation reduces anoikis susceptibility, phenotype, overview. Enzyme up-regulation occurs predominantly in pancreatic cancer but also in other malignancies	722220	
2.7.1.60	malfunction	stable knock-down of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in HEK-293 cells dramatically increases incorporation of N-acetylmannosamine analogues into glycoproteins of HEK-293 cells	716189	
2.7.1.60	metabolism	GNE is the key enzyme of sialic acid biosynthesis	722220	
2.7.1.60	metabolism	rate-limiting in the sialic acid biosynthetic pathway	705073	
2.7.1.60	metabolism	sialic acid biosynthesis pathway	706438	
2.7.1.60	metabolism	the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, GNE, catalyzes the first two committed steps in sialic acid synthesis	-, 722375	
2.7.1.60	metabolism	the enzyme catalyzes the second step of the sialic acid catabolic pathway	-, 758597	
2.7.1.60	metabolism	UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) catalyzes the first two committed steps in sialic acid synthesis	721653	
2.7.1.60	metabolism	UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is the key enzyme in the sialic acid biosynthetic pathway	716189	
2.7.1.60	additional information	active site structure of the N-acetylmannosamine kinase domain, ligand binding and reaction mechanism, catalytic role of Asp517, overview. The side chain of Asp-413 does not directly bind one of the oxygens of the beta-phosphate but is necessary for Mg2+ coordination and consequently crucial for ATP binding	722749	
2.7.1.60	additional information	epimerase enzymatic activity of isozymes GNE3 and GNE8 is likely absent, since the deleted fragment contains important substrate binding residues in homologous bacterial epimerases. Isozymes hGNE5-hGNE8 have a 53-residue deletion, which is assigned a role in substrate(UDP-GlcNAc) binding	721653	
2.7.1.60	physiological function	GNE exerts transcriptional control on genes related to endoplasmic reticulum stress. Association of low GNE activity and anoikis susceptibility	722220	
2.7.1.60	physiological function	the bifunctional UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase transforms UDP-N-acetylglucosamine to N-acetylmannosamine followed by its phosphorylation to ManNAc 6-phosphate and has a direct impact on the sialylation of cell surface components	722749	
2.7.1.60	physiological function	the mGne2 encoding transcript is differentially expressed and may act as a tissue-specific regulator of sialylation. mGne2 expression appears significantly increased the first 2 days of life, possibly reflecting the high sialic acid demand during this period	-, 722375