GNS : glucosamine (N-acetyl)-6-sulfatase
Description
The GNS gene encodes the enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a crucial enzyme in the biosynthesis of sialic acid. Sialic acid is a sugar molecule found on the surface of cells, playing a vital role in various biological processes, including cell adhesion, immune response, and neurotransmission. GNS gene mutations can lead to a deficiency in sialic acid production, resulting in a spectrum of disorders affecting multiple organ systems.
Associated Diseases
Did you know?
GNS gene mutations are more prevalent in certain ethnic populations, such as Ashkenazi Jews.
