5C54.1
Disorders of protein O-glycosylation
Distúrbios da O-glicosilação proteica
CategoryDefinition
Congenital disorders involving defective O-linked glycosylation, which typically occurs via an alpha linkage of the glycan to the hydroxyl group of a serine or threonine residue on a protein
Index Terms
Disorders of protein O-glycosylationDefects in O-xylosylglycan synthesisBeta-1,4-galactosyltransferase 7 deficiencyDefects in O-N-acetylgalactosaminylglycan synthesisPolypeptide N-acetylgalactosaminyl transferase deficiencyHyperphosphataemic familial tumoural calcinosisDefects in O-xylosyl/N-acetylgalactosaminylglycan synthesisDefects in O-mannosylglycan synthesisProtein-O-mannosyltransferase 1Protein-O-mannosyltransferase 2 deficiencyProtein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiencyFukutin deficiencyFukutin-related protein deficiencyN-acetylglucosaminyltransferase-like protein deficiencyO-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiencyO-fucose-specific beta-1,3-N-glucosyltransferase deficiency