Polypeptide n-acetylgalactosaminyltransferase-associated phenotypes in mammals
Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
Standard
Polypeptide n-acetylgalactosaminyltransferase-associated phenotypes in mammals. / Kato, Kentaro; Hansen, Lars; Clausen, Henrik.
I: Molecules, Bind 26, Nr. 18, 5504, 2021.Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Polypeptide n-acetylgalactosaminyltransferase-associated phenotypes in mammals
AU - Kato, Kentaro
AU - Hansen, Lars
AU - Clausen, Henrik
N1 - Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2021
Y1 - 2021
N2 - 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 2.4.1.41). 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.
AB - 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 2.4.1.41). 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.
KW - GalNAc-T
KW - GALNT
KW - O-glycosylation
KW - Polypeptide N-acetylgalactosaminyltransferase
KW - UDP-GalNAc: polypeptide N-acetylgala ctosaminyltransferase
U2 - 10.3390/molecules26185504
DO - 10.3390/molecules26185504
M3 - Review
C2 - 34576978
AN - SCOPUS:85114953314
VL - 26
JO - Molecules
JF - Molecules
SN - 1420-3049
IS - 18
M1 - 5504
ER -
ID: 280112763