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.
Changes in the B3GLCT gene produce an abnormally short and nonfunctional form of the beta 3-glucosyltransferase (B3Glc-T) enzyme, which impairs glycosylation.