N-Acetylmannosamine Kinase/GNE Products

Description

The protein encoded by the GNE gene is a bifunctional enzyme that monitors and begins biosynthesis of N-acetylneuraminic acid (NeuAc). NeuAC is a precursor of sialic acids and functions in early development as sialylation is a component of cell adhesion, signal transduction, and tumorigencity and metastic behavior of malignant cells. The GNE gene has been linked to various diseases such as: myopathy, dementia, glomerulosclerosis, muscular dystrophy, and neuromuscular disease. This protein creates an enzyme that is rate-limiting in the sialic acid biosynthetic pathway as well as plays a role in amino and nucleotide sugar metabolism as well as CMP-N-acetylneuraminate biosynthesis in eukaryotes. The GNE gene is known to interact with genes CRMP1. ZBTB16, PIK3C2A, KIAA1549, and RIF1 to participate in these pathways. GNE exists is five isoforms: isoform 1: 722 amino acids long; 79 kDA; isoform 2: 753 amino acids long, 83 kDA; isoform 3: 681 amino acids long; 74 kDA; isoform 4: 648 amino acids long, 71 kDA; isoform 5: 612 amino acids long, 66 kDA.

Bioinformatics

Entrez	10020 Human
Uniprot	NP_005467 Human NP_005467.1 Human
Product By Gene ID	10020
Alternate Names	bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase DMRV GLCNENM glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IBM2 N-acylmannosamine kinase Uae1 UDP-GlcNAc-2-epimerase/ManAc kinase UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase