Molecular characteristics

The STT3A gene produces a protein crucial for glycosylation. This is the process of attaching sugar chains, or glycans, to proteins as they are being made by the cell. Glycans are important for the eventual function of these proteins. For example, they may be required to fold the protein correctly, or to traffic it to the correct place within the cell. Therefore, when mutations disrupt the function of STT3A, many proteins are affected by defective glycosylation. This makes STT3A-CDG part of a larger group of disorders known as Congenital Disorders of Glycosylation, or CDG.