5C54.1
category
Disorders of protein O-glycosylation
Definition
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
Also indexed as
Beta-1,4-galactosyltransferase 7 deficiencyDefects in O-N-acetylgalactosaminylglycan synthesisDefects in O-mannosylglycan synthesisDefects in O-xylosyl/N-acetylgalactosaminylglycan synthesisDefects in O-xylosylglycan synthesisDisorders of protein O-glycosylationFukutin deficiencyFukutin-related protein deficiencyHyperphosphataemic familial tumoural calcinosisN-acetylglucosaminyltransferase-like protein deficiencyO-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiencyO-fucose-specific beta-1,3-N-glucosyltransferase deficiencyPolypeptide N-acetylgalactosaminyl transferase deficiencyProtein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiencyProtein-O-mannosyltransferase 1Protein-O-mannosyltransferase 2 deficiency