KEGG   NETWORK: N00794Help
Entry
N00794                      Network                                

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) -> (Ca2+,DAG) -> (5578,5579,5582) -> 50506v1 // H2O2
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Pathway
hsa04918  Thyroid hormone synthesis
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
50506v1  DUOX2 mutation
Metabolite
C00076  Calcium cation
C00165  Diacylglycerol
C00027  Hydrogen peroxide
Reference
  Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
  Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
  Journal
Eur J Endocrinol 179:R297-R317 (2018)
DOI:10.1530/EJE-18-0383
Reference
  Authors
Vono-Toniolo J, Kopp P
  Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
  Journal
Arq Bras Endocrinol Metabol 48:70-82 (2004)
DOI:10.1590/S0004-27302004000100009
Reference
  Authors
Targovnik HM, Citterio CE, Rivolta CM
  Title
Iodide handling disorders (NIS, TPO, TG, IYD).
  Journal
Best Pract Res Clin Endocrinol Metab 31:195-212 (2017)
DOI:10.1016/j.beem.2017.03.006
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