Refine search

Search Organism

show results
Refine your search
Include UniProt entries
Filter for unique EC numbers for the selected taxonomic group (e.g. 'Alphaproteobacteria', 'Magnoliophyta', 'Mammalia')
include FRENDA results (AMENDA + additional results, but less precise)

Search term:

<< < Results 11 - 20 of 32 > >>
EC Number
Organism
Commentary
Reference
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, splice variant hGNE2
isoform 2; isoform 3
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
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
<< < Results 11 - 20 of 32 > >>