Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Thre protein product of the GNE gene is involved in sialic acid modification on the cell surface. Mutation cause autosomal recessive or dominant disorders either French type sialuria or Nonaka myopathy.

Interpretation

Three autosomal recessive disorders are caused by mutation of the GNE gene. Mutations located in the sugar kinase domain cause Nonaka myopathy, in epimerase or kinase domain or both inclusion body myopathy, and epimerase domain sialuria.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Sialuria
GNE
Nonaka myopathy
GNE
Inclusion body myopathy 2
GNE

References:

1.

Eisenberg I et al. (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

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2.

Broccolini A et al. (2002) An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

external link
3.

Seppala R et al. (1999) Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

external link
4.

Leroy JG et al. (2001) Dominant inheritance of sialuria, an inborn error of feedback inhibition.

external link
5.

Orphanet article

Orphanet ID 122207 external link
6.

NCBI article

NCBI 10020 external link
7.

OMIM.ORG article

Omim 603824 external link
8.

Wikipedia article

Wikipedia EN (GNE_(gene)) external link
Update: Aug. 14, 2020
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