These mutations of the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the beta 3-glucosyltransferase (B3Glc-T) enzyme, which disrupts glycosylation.
Mutations within the B3GLCT gene cause the production of a shortened, ineffective version of the beta 3-glucosyltransferase (B3Glc-T) enzyme. This disruption affects the process of glycosylation.