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Protein glycosylation: Chaperone mutation in Tn syndrome.
- Source :
-
Nature . 10/27/2005, Vol. 437 Issue 7063, p1252-1252. 1p. 1 Graph. - Publication Year :
- 2005
-
Abstract
- Tn syndrome is a rare autoimmune disease in which subpopulations of blood cells in all lineages carry an incompletely glycosylated membrane glycoprotein, known as the Tn antigen. This truncated antigen has the sugar N-acetylgalactosamine α-linked to either a serine or threonine amino-acid residue, whereas the correct T antigen has an additional terminal galactose; the defect may be due to a malfunction of the glycosylating enzyme T-synthase. Here we show that Tn syndrome is associated with a somatic mutation in Cosmc, a gene on the X chromosome that encodes a molecular ‘chaperone’ that is required for the proper folding and hence full activity of T-synthase. The production of the autoimmune Tn antigen by a glycosyltransferase enzyme rendered defective by a disabled chaperone may have implications for other Tn-related disorders such as IgA nephropathy, a condition that can result in renal failure. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00280836
- Volume :
- 437
- Issue :
- 7063
- Database :
- Academic Search Index
- Journal :
- Nature
- Publication Type :
- Academic Journal
- Accession number :
- 18668814
- Full Text :
- https://doi.org/10.1038/4371252a