GNE (UDP-N-Acetylglucosamine 2-Epimerase) encodes a bifunctional enzyme that catalyzes the conversion of UDP-N-acetylglucosamine (UDP-GlcNAc) to N-acetylmannosamine (ManNAc), the first committed step in sialic acid biosynthesis. This gene is essential for the production of sialic acids, which are critical for various biological processes.
| GNE | |
|---|---|
| Gene Symbol | GNE |
| Full Name | UDP-N-Acetylglucosamine 2-Epimerase |
| Aliases | UNC-50, GLCNE |
| Chromosome | 9p13.3 |
| NCBI Gene ID | 10019 |
| OMIM | 605828 |
| UniProt ID | Q9Y5R9 |
The GNE gene provides instructions for making an enzyme called UDP-N-acetylglucosamine 2-epimerase, also known as GNE. This enzyme plays a crucial role in the biosynthesis of sialic acids, which are sugar molecules that terminate many glycoproteins and glycolipids. Sialic acids are essential for cell-cell recognition, immune response, and nervous system function.
GNE encodes a bifunctional enzyme with two catalytic activities:
These reactions are the rate-limiting steps in sialic acid (N-acetylneuraminic acid) biosynthesis.
Sialic acids are terminal sugar residues on glycoproteins and glycolipids that mediate:
GNE is widely expressed:
In the brain, GNE is essential for ganglioside synthesis and neuronal function.
Autosomal recessive mutations in GNE cause:
GNE mutations are associated with:
GNE encodes the rate-limiting enzyme in sialic acid biosynthesis, essential for proper glycosylation and neuronal function.