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Literature summary for 2.7.1.60 extracted from

  • Yardeni, T.; Jacobs, K.; Niethamer, T.K.; Ciccone, C.; Anikster, Y.; Kurochkina, N.; Gahl, W.A.; Huizing, M.
    Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: secondary structures, expression profiles, and response to ManNAc therapy (2013), Glycoconj. J., 30, 609-618.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
cloning of isozymes mGNE1 and mGNE2, DNA and amino acid sequence determination and analysis, quantitative real-time PCR expression analysis and sequence comparison Mus musculus

Protein Variants

Protein Variants Comment Organism
D176V oral administration of the sialic acid precursor N-acetylmannosamine rescues the muscle phenotype in the transgenic Gne p.D176V mouse and partially rescues the glomerular disease and early lethality in the knockin Gne mutant M712T mouse model Mus musculus
M712T naturally occuring mutation of isozyme mGne2. Tissues of the knock-in Gne p.M712T mouse model has similar mGne transcript expression levels among genotypes, indicating no effect of the mutation on mRNA expression, but the mutant shows increased activity in presence of N-acetylmannosamine compared to the wild-type enzyme. M712T mouse mutants die within 72 h of birth from severe glomerular disease Mus musculus

Organism

Organism UniProt Comment Textmining
Mus musculus Q91WG8 two mouse Gne mRNA transcripts, encoding mGne1 and mGne2, gene Gne
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Subunits

Subunits Comment Organism
More the GNE enzyme consists of two enzymatic domains, sequence comparisons, secondary structures, and modeling of isozymes mGNE1 and mGNE2 Mus musculus

Synonyms

Synonyms Comment Organism
GNE
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Mus musculus
UDP-GlcNAc 2-epimerase/ManNAc kinase
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Mus musculus

General Information

General Information Comment Organism
evolution sequence comparion and modeling of human hGNE1 and mouse mGne1 isozymmess, overview Mus musculus
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 Mus musculus
metabolism the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, GNE, catalyzes the first two committed steps in sialic acid synthesis Mus musculus
physiological function the mGne2 encoding transcript is differentially expressed and may act as a tissue-specific regulator of sialylation. mGne2 expression appears significantly increased the first 2 days of life, possibly reflecting the high sialic acid demand during this period Mus musculus