ST3GAL3
Description
The ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3) is a protein-coding gene located on chromosome 1.
ST3GAL3, also known as ST3 beta-galactoside alpha-2,3-sialyltransferase 3, is a protein that's important for adding sialic acid to sugars in our cells. This process, called glycosylation, is crucial for many cellular functions. ST3GAL3 is a type II membrane protein, meaning it's anchored to the cell membrane. It resides in the Golgi apparatus, a cellular organelle responsible for processing and packaging proteins. ST3GAL3 can also exist in a soluble form after being broken down. Mutations in the ST3GAL3 gene have been linked to a form of mental retardation, highlighting the importance of this protein for brain development and function.
ST3GAL3 catalyzes the formation of specific sugar sequences (NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-) found on the ends of carbohydrate chains in glycoproteins and glycolipids. It shows the strongest activity towards Gal-beta-1,3-GlcNAc and the weakest activity towards Gal-beta-1,3-GalNAc.
ST3GAL3 is also known as DEE15, EIEE15, MRT12, SIAT6, ST3GALII, ST3Gal III, ST3GalIII, ST3N.
Associated Diseases
- Infantile spasms syndrome
- Mental retardation, autosomal recessive 12
- Developmental and epileptic encephalopathy 15
