Polypeptide n-acetylgalactosaminyltransferase-associated phenotypes in mammals

Research output: Contribution to journalReviewResearchpeer-review


Mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc: polypeptide N-acetylgalactosaminyl transferases (GalNAc-Ts) (EC The enzymes are encoded by a large gene family (GALNTs). Two of these genes, GALNT2 and GALNT3, are known as monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Until recently, the overlapping functionality of the 20 members of the enzyme family has hindered characterizing the specific biological roles of individual enzymes. However, recent evidence suggests that these enzymes do not have full functional redundancy and may serve specific purposes that are found in the different phenotypes described. Here, we summarize the current knowledge of GALNT and associated phenotypes.

Original languageEnglish
Article number5504
Issue number18
Publication statusPublished - 2021

Bibliographical note

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.

    Research areas

  • GalNAc-T, GALNT, O-glycosylation, Polypeptide N-acetylgalactosaminyltransferase, UDP-GalNAc: polypeptide N-acetylgala ctosaminyltransferase

ID: 280112763