The GNE gene provides instructions for making an enzyme that is found in cells and tissues throughout the body. This enzyme plays a key role in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions, including cell movement (migration), the attachment of cells to one another (adhesion), signaling between cells, and inflammation.
The enzyme produced from the GNE gene is responsible for two steps in the formation of sialic acid. It first converts a molecule known as UDP-GlcNAc (UDP-N-acetylglucosamine) to a similar molecule called ManNAc (N-acetylmannosamine). In the next step, the enzyme transfers a cluster of oxygen and phosphorus atoms (a phosphate group) to ManNAc to create ManNAc-6-phosphate. Other enzymes then convert ManNAc-6-phosphate to sialic acid.
Other Names
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; DMRV; GLCNE; IBM2; Uae1; UDP-GlcNAc-2-epimerase/ManAc kinase; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Related Genetics Topics
Identifiers
- NCBI Gene: 10020
- OMIM: 603824
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
