EC Number   |
General Information |
Reference  |
|---|
    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 | metabolism |
rate-limiting in the sialic acid biosynthetic pathway |
705073 |
| 2.7.1.60 | malfunction |
mutations cause sialurea or inclusion body myopathy/Nonaka myopathy |
706438 |
| 2.7.1.60 | metabolism |
sialic acid biosynthesis pathway |
706438 |
| 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 |
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is the key enzyme in the sialic acid biosynthetic pathway |
716189 |
| 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 | metabolism |
UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) catalyzes the first two committed steps in sialic acid synthesis |
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 | 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 |
