| Entry |
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| Name |
Mutation-inactivated DUOX2 to TSH-DUOX2-TG signaling pathway
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| Definition |
TSHB -> TSHR -> GNAQ -> PLCB -> (Ca2+,DAG) -> PKC -> DUOX2* // H2O2 |
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| Expanded |
7252 -> 7253 -> 2776 -> (23236,5330,5331,5332) -> (Ca2+,DAG) -> (5578,5579,5582) -> 50506v1 // H2O2 |
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| Class |
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| Type |
Variant
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| Pathway |
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| Disease |
| H00251 | Thyroid dyshormonogenesis |
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| Gene |
| 7252 | TSHB; thyroid stimulating hormone subunit beta |
| 7253 | TSHR; thyroid stimulating hormone receptor |
| 2776 | GNAQ; G protein subunit alpha q |
| 23236 | PLCB1; phospholipase C beta 1 |
| 5330 | PLCB2; phospholipase C beta 2 |
| 5331 | PLCB3; phospholipase C beta 3 |
| 5332 | PLCB4; phospholipase C beta 4 |
| 5578 | PRKCA; protein kinase C alpha |
| 5579 | PRKCB; protein kinase C beta |
| 5582 | PRKCG; protein kinase C gamma |
| 50506 | DUOX2; dual oxidase 2 |
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| Variant |
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| Metabolite |
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| Reference |
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| Authors |
Peters C, van Trotsenburg ASP, Schoenmakers N |
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| Title |
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives |
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| Journal |
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| Reference |
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| Authors |
Vono-Toniolo J, Kopp P |
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| Title |
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. |
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| Journal |
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| Reference |
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| Authors |
Targovnik HM, Citterio CE, Rivolta CM |
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| Title |
Iodide handling disorders (NIS, TPO, TG, IYD). |
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| Journal |
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| LinkDB |
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