EC Number   |
General Information |
Reference |
|---|
    2.7.1.60 | more |
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 | 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 | more |
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 | metabolism |
GNE is the key enzyme of sialic acid biosynthesis |
722220 |
| 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 |
