| Entry |
|
|---|
| Name |
Mutation-inactivated SLC16A2 to thyroid hormone signaling pathway
|
|---|
| Definition |
SLC16A2* // T3 -> (THRB,THRA) |
|---|
| Expanded |
6567v1 // C02465 -> (7068,7067) |
|---|
| Class |
|
|---|
| Type |
Variant
|
|---|
| Disease |
| H00650 | Allan-Herndon-Dudley syndrome |
|
|---|
| Gene |
| 6567 | SLC16A2; solute carrier family 16 member 2 |
| 7068 | THRB; thyroid hormone receptor beta |
| 7067 | THRA; thyroid hormone receptor alpha |
|
|---|
| Variant |
6567v1 (SLC16A2*) SLC16A2 mutation
|
|---|
| Metabolite |
|
|---|
| Reference |
|
|---|
| Authors |
Dumitrescu AM, Refetoff S |
|---|
| Title |
Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action |
|---|
| Journal |
Endotext (2000) |
|---|
| Reference |
|
|---|
| Authors |
Novara F, Groeneweg S, Freri E, Estienne M, Reho P, Matricardi S, Castellotti B, Visser WE, Zuffardi O, Visser TJ |
|---|
| Title |
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Yamamoto T, Shimojima K, Umemura A, Uematsu M, Nakayama T, Inoue K |
|---|
| Title |
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
