Organism   |
Reference  |
|---|
| Homo sapiens | - |
2275, 641741, 653885, 661666, 661682, 661735, 662186, 674638, 703285, 703865, 716189 |
| Homo sapiens | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase |
694815 |
| Homo sapiens | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, splice variant hGNE2 |
692536 |
| Homo sapiens | gene GNE |
703912 |
| Homo sapiens | isoform 2 |
673693 |
| Homo sapiens | isoform 3 |
673693 |
| Homo sapiens | mutations in patients with hereditary inclusion body myopathy: G135V/R246W (GNE/GNE domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 38% of wild-type, N-acetylmannosamine kinase activity is 72% of wild-type. V216A/A631V (GNE/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 48% of wild-type, N-acetylmannosamine kinase activity is 63% of wild-type. M712T/M712T (MNK/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 83% of wild-type, N-acetylmannosamine kinase activity is 55% of wild-type |
661840 |
| Homo sapiens | three different isozymes, hGNE1, hGNE2, and hGNE3, from the two splice variants including exon A1, The N-terminus of hGNE2 is prolonged by 31 additional amino acids. The lack of exon 2 in the cDNA encoding for hGNE3 leads to loss of the first 55 amino acids of hGNE1 |
702507 |
| Kocuria varians | - |
2272 |
| Methanocaldococcus jannaschii | - |
728782, 749249 |
