Beta-1,3-glucosyltransferase (B3GLCT)

Beta-1,3-glucosyltransferase (B3GLCT) is an enzyme that catalyzes the transfer of glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins, particularly contributing to the elongation of O-fucosylglycan structures in a beta-1,3 linkage. This enzyme is critical for normal glycosylation, a post-translational modification regulating protein function, stability, and localization. B3GLCT is ubiquitously expressed in human tissues. Mutations in the B3GLCT gene are causative of Peters Plus syndrome, a multisystem disorder characterized by ocular defects, short stature, intellectual disability, and distinctive facial features. Defective B3GLCT function leads to impaired glycosylation and broad dysfunction in proteins requiring this sugar modification[1][2][8].

Other names

B3GALTLB3Glc-TB3GTLbeta 1,3-galactosyltransferase-likebeta-3-glycosyltransferase-likebeta3Glc-T