KEGG   DISEASE: Tn syndrome
Entry
H01188                      Disease                                

Name
Tn syndrome
Description
Tn syndrome is a rare autoimmune disease characterized by the expression of the Tn antigen, an incompletely glycosylated membrane glycoprotein, on all blood cell lineages. The epitope of the Tn antigen is terminal alpha-N-acetylgalactosamine alpha-linked to either a serine or threonine amino-acid residue. The defect may be due to a malfunction of the glycosylating enzyme T-synthase. Tn syndrome is associated with a somatic mutation in Cosmc gene, encoding a molecular chaperone that is required for the proper folding and hence full activity of T-synthase.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H01188  Tn syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C54  Inborn errors of glycosylation or other specified protein modification
     H01188  Tn syndrome
Pathway
hsa00512  Mucin type O-glycan biosynthesis
Gene
COSMC [HSA:29071] [KO:K09653]
Other DBs
ICD-11: 5C54.1
MeSH: C562719
OMIM: 300622
Reference
  Authors
Ju T, Cummings RD
  Title
Protein glycosylation: chaperone mutation in Tn syndrome.
  Journal
Nature 437:1252 (2005)
DOI:10.1038/4371252a
Reference
  Authors
Ju T, Otto VI, Cummings RD
  Title
The Tn antigen-structural simplicity and biological complexity.
  Journal
Angew Chem Int Ed Engl 50:1770-91 (2011)
DOI:10.1002/anie.201002313
Reference
  Authors
Berger EG
  Title
Tn-syndrome.
  Journal
Biochim Biophys Acta 1455:255-68 (1999)
DOI:10.1016/S0925-4439(99)00069-1

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