| Entry |
|
|---|
| 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 |
|
|---|
| Other DBs |
|
|---|
| Reference |
|
|---|
| Authors |
Ju T, Cummings RD |
|---|
| Title |
Protein glycosylation: chaperone mutation in Tn syndrome. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Ju T, Otto VI, Cummings RD |
|---|
| Title |
The Tn antigen-structural simplicity and biological complexity. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Berger EG |
|---|
| Title |
Tn-syndrome. |
|---|
| Journal |
|
|---|
