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Literature summary for 5.1.3.14 extracted from

  • Voermans, N.C.; Guillard, M.; Doedee, R.; Lammens, M.; Huizing, M.; Padberg, G.W.; Wevers, R.A.; van Engelen, B.G.; Lefeber, D.J.
    Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy (2010), Clin. Neuropathol., 29, 71-77.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 5.1.3.14

Protein Variants

Protein Variants Comment Organism
additional information the frame shif mutation 1295delA, leading to a premature stop codon at K432, is involved in hereditary inclusion body myopathy, phenotype, overview Homo sapiens
V696M naturally occuring missense mutation G2086A involved in hereditary inclusion body myopathy, phenotype, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
cytoplasm
-
 Homo sapiens 5737
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
UDP-N-acetyl-D-glucosamine + H2O Homo sapiens
-
 UDP + N-acetylmannosamine
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
skeletal muscle
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information GNE is a bifunctional enzyme with UDP-GlcNAc 2-epimerase and ManNAc kinase activities Homo sapiens ?
-
 ?
UDP-N-acetyl-D-glucosamine + H2O
-
 Homo sapiens UDP + N-acetylmannosamine
-
 ?

Synonyms

Synonyms Comment Organism
GNE
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction GNE deficiency can lead to hereditary inclusion body myopathy, HIBM, phenotypes, overview Homo sapiens
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 Homo sapiens