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Literature summary for 5.1.3.14 extracted from

  • Saechao, C.; Valles-Ayoub, Y.; Esfandiarifard, S.; Haghighatgoo, A.; No, D.; Shook, S.; Mendell, J.R.; Rosales-Quintero, X.; Felice, K.J.; Morel, C.F.; Pietruska, M.; Darvish, D.
    Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent (2010), Genet. Test. Mol. Biomarkers, 14, 157-162.
    View publication on PubMed
Search for more literature for 5.1.3.14

Cloned(Commentary)

Cloned (Comment) Organism
DNA sequencing of the GNE coding region of 64 symptomatic patients with autosomal recessive hereditary inclusion body myopathy, genotyping-phenotyping of patients from different ethnics, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
A631V a naturally occuring missense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
E2G a naturally occuring missense mutation in exon 2 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
I142T a naturally occuring missense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
I298T a naturally occuring missense mutation in exon 5 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
L556S a naturally occuring missense mutation in exon 10 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
additional information a synonymous variation, p.Y591Y, codon tac>tat, is seen in a patient bearing compound heterozygous nonsynonymous mutation, p.S615X and p.Y675H Homo sapiens
Q436X a naturally occuring nonsense mutation in exon 8 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
R246Q a naturally occuring missense mutation in exon 4 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
R335W a naturally occuring missense mutation in exon 6 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
R71W a naturally occuring missense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
R8X a naturally occuring nonsense mutation in exon 2 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
S615X a naturally occuring nonsense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
V696M a naturally occuring missense mutation in exon 12 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
W204X a naturally occuring nonsense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
Y675H a naturally occuring missense mutation in exon 12 of the GNE gene of a patient with hereditary inclusion body myopathy 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
UDP-GlcNAc 2-epimerase/ManNAc kinase gene
-
 Homo sapiens

General Information

General Information Comment Organism
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 Homo sapiens
metabolism GNE is the rate-limiting enzyme of N-acetylneuraminate, i.e. sialic acid, biosynthesis Homo sapiens