Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary 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

Cloned(Commentary)

EC Number Cloned (Comment) Organism
5.1.3.14 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

EC Number Protein Variants Comment Organism
5.1.3.14 A631V a naturally occuring missense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 E2G a naturally occuring missense mutation in exon 2 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 I142T a naturally occuring missense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 I298T a naturally occuring missense mutation in exon 5 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 L556S a naturally occuring missense mutation in exon 10 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 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
5.1.3.14 Q436X a naturally occuring nonsense mutation in exon 8 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 R246Q a naturally occuring missense mutation in exon 4 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 R335W a naturally occuring missense mutation in exon 6 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 R71W a naturally occuring missense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 R8X a naturally occuring nonsense mutation in exon 2 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 S615X a naturally occuring nonsense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 V696M a naturally occuring missense mutation in exon 12 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 W204X a naturally occuring nonsense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens
5.1.3.14 Y675H a naturally occuring missense mutation in exon 12 of the GNE gene of a patient with hereditary inclusion body myopathy Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
5.1.3.14 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
5.1.3.14 skeletal muscle
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
5.1.3.14 GNE
-
 Homo sapiens
5.1.3.14 UDP-GlcNAc 2-epimerase/ManNAc kinase gene
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
5.1.3.14 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
5.1.3.14 metabolism GNE is the rate-limiting enzyme of N-acetylneuraminate, i.e. sialic acid, biosynthesis Homo sapiens