Molecular characteristics

The CAMLG gene produces a protein crucial for the insertion of other proteins into membranes which define different compartments of the human cell. These proteins, which are no longer properly inserted, cannot perform their correct functions. One of these functions appears to be the process of modelling and attaching sugar chains, or glycans, to other 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. This makes CAMLG-CDG part of a larger group of disorders known as Congenital Disorders of Glycosylation, or CDG, and means we can measure this unusual glycosylation in the blood of patients as a marker of the disorder.