ⓘ GNE (gene)

                                     

ⓘ GNE (gene)

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is an enzyme that in humans is encoded by the GNE gene.

To the bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase on UDP-GlcNAc 2-epimerase / N-acetylmannosamine kinase, regulates and initiates biosynthesis of N-acetylneuraminic acid is NeuAc, a precursor of sialic acids. UDP-GlcNAc 2-epimerase activity is the limiting step for the biosynthesis of sialic acids and is necessary for salelasuna in hematopoietic cells. Enzyme activity can be controlled at the transcriptional level and may affect salelasuna and function of specific cell surface molecules expressed by b-lymphocytes and myeloid cells. Modification of cell surface molecules with sialic acid is crucial for their function in many biological processes, including cell adhesion and signal transduction. Differential salelasuna molecules of the cell surface is also involved in laboratory and metastatic behavior of malignant cells. Sialuria is a rare inborn error of metabolism characterized by the accumulation in the cytoplasm and an increase in urinary excretion of free NeuAc.