Entry |
|
Name |
Mutation-inactivated DUOX2 to TSH-DUOX2-TG signaling pathway
|
Definition |
TSHB -> TSHR -> GNAQ -> PLCB -> (Ca2+,DAG) -> PKC -> DUOX2* // H2O2 |
Expanded |
7252 -> 7253 -> 2776 -> (23236,5330,5331,5332) -> (C00076,C00165) -> (5578,5579,5582) -> 50506v1 // C00027 |
Class |
|
Type |
Variant
|
Disease |
H00251 | Thyroid dyshormonogenesis |
|
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 |
|
Variant |
|
Metabolite |
|
Reference |
|
Authors |
Peters C, van Trotsenburg ASP, Schoenmakers N |
Title |
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives |
Journal |
|
Reference |
|
Authors |
Vono-Toniolo J, Kopp P |
Title |
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. |
Journal |
|
Reference |
|
Authors |
Targovnik HM, Citterio CE, Rivolta CM |
Title |
Iodide handling disorders (NIS, TPO, TG, IYD). |
Journal |
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LinkDB |
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