EC Number   |
General Information |
Reference  |
|---|
    5.1.3.14 | malfunction |
enzyme deficiency causes the disease sialuria in humans. Hereditary inclusion body myopathy, h-IBM, is also a disease caused by different mutations in the GNE gene, it is an autosomal recessive neuromuscular disorder characterized by adult onset, slowly progressive skeletal muscle weakness, and typical histological features as rimmed vacuoles and filamentous inclusions. Sialuria is caused by the loss of feedback control of UDP-GlcNAc 2-epimerase activity due to the mutation of only one of the two arginine residues 263 and 266. Sialuria leads to massive production of free Neu5Ac, which accumulates in the cytoplasm and results in mental retardation and hepatomegaly |
702507 |
| 5.1.3.14 | physiological function |
the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, GNE, is the key enzyme for the biosynthesis of N-acetylneuraminic acid, from which all other sialic acids are formed |
702507 |
| 5.1.3.14 | malfunction |
GNE deficiency can lead to hereditary inclusion body myopathy, HIBM, phenotypes, overview |
703285 |
| 5.1.3.14 | metabolism |
the enzyme catalyzes the first two steps in the sialic acid biosynthesis, required for sialylation of diverse glycoproteins and glycolipids e.g. in skeletal muscle |
703285 |
| 5.1.3.14 | malfunction |
mutations in the GNE gene are associated with autosomal recessive hereditary inclusion body myopathy, i.e. HIBM or IBM2, a progressive adult onset muscle wasting disorder characterized by sparing of the quadriceps. IBM2 is also known as distal myopathy with rimmed vacuoles or nonaka myopathy |
703865 |
| 5.1.3.14 | metabolism |
GNE is the rate-limiting enzyme of N-acetylneuraminate, i.e. sialic acid, biosynthesis |
703865 |
| 5.1.3.14 | malfunction |
inactivation of GNE causes early embryonic lethality |
703905 |
| 5.1.3.14 | metabolism |
GNE catalyzes the first two steps of sialic acid biosynthesis in the cytosol |
703905 |
| 5.1.3.14 | physiological function |
GNE is required for sialic acid biosynthesis, the sialic acid pathway and the respective sialic acid precursors such as ManNAc do regulate the MAP kinase signalling pathway, influencing processes like cell proliferation, overview |
703905 |
| 5.1.3.14 | malfunction |
GNE mutations can result in two human disorders, hereditary inclusion body myopathy, HIBM, and sialuria |
703912 |
