GNE (gene)

GNE is a gene in humans that encodes the enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme is involved in the biosynthesis of sialic acids, which are important for a variety of biological functions.

Function

The GNE gene provides instructions for making an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme has two functions, each performed by a different region of the protein. The first part of the enzyme, known as the epimerase region, helps convert a molecule called UDP-N-acetylglucosamine to a molecule called N-acetylmannosamine. The second part of the enzyme, known as the kinase region, adds a phosphate group to N-acetylmannosamine to produce N-acetylmannosamine 6-phosphate. These reactions are the first steps in the production of a group of molecules called sialic acids.

Clinical significance

Mutations in the GNE gene are associated with GNE myopathy, a rare muscle disorder. This condition is characterized by progressive muscle weakness and wasting, primarily affecting the muscles in the legs. The condition is caused by a shortage of sialic acids in muscle cells, which affects the normal function of these cells.

See also

• GNE myopathy
• Sialic acid

References

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External links

• NCBI Gene
• GHR Gene

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