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Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)

Stable Identifier
R-HSA-5083632
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1; MIM:610555) mediates the transfer of Galactose (Gal) from UDP-galactose to single O-linked GalNAc residues (Tn antigens) to form Core 1 structures on glycoproteins. C1GALT1 is active when in complex with the molecular chaperone C1GALT1C1 (aka COSMC; MIM:300611) which assists the folding and/or stability of C1GALT1. Defects in C1GALT1C1 causes somatic Tn polyagglutination syndrome (TNPS; MIM:300622), characterised by the polyagglutination of erythrocytes by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on their surface. Defects in C1GALT1C1 render C1GALT1 inactive and results in the accumulation of the incompletely glycosylated Tn antigen. The Tn antigen is tumour-associated, found in a majority of human carcinomas, and is not normally expressed in peripheral tissues or blood cells (Crew et al. 2008, Ju et al. 2014). C1GALT1 and C1GALT1C1 belong to the CAZy family GT31 (www.cazy.org).

Literature References
PubMed ID Title Journal Year
18537974 New mutations in C1GALT1C1 in individuals with Tn positive phenotype Br. J. Haematol. 2008
24643043 The Cosmc connection to the Tn antigen in cancer Cancer Biomark 2014
Participants
Participant Of
Disease
Name Identifier Synonyms
carcinoma 305 epithelioma, malignant Epithelioma