KEGG   NETWORK: N00919Help
Entry
N00919                      Network                                

Name
Mutation-inactivated TRHR to PLCB-PKC signaling pathway
Definition
TRH // TRHR* // GNAQ/11 -> PLCB -> (Ca2+,DAG) -> PKC -> TSHB
  Expanded
7200 // 7201v1 // (2776,2767) -> (23236,5330,5331,5332) -> (C00076,C00165) -> (5578,5579,5582) -> 7252
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Disease
H01700  Hypopituitarism
H00250  Congenital nongoitrous hypothyroidism (CHNG)
Gene
7200  TRH; thyrotropin releasing hormone
7201  TRHR; thyrotropin releasing hormone receptor
2776  GNAQ; G protein subunit alpha q
2767  GNA11; G protein subunit alpha 11
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
7252  TSHB; thyroid stimulating hormone subunit beta
Variant
7201v1  TRHR mutation
Metabolite
C00076  Calcium cation
C00165  Diacylglycerol
Reference
PMID:9141550
  Authors
Collu R, Tang J, Castagne J, Lagace G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne KA, Van Vliet G
  Title
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.
  Journal
J Clin Endocrinol Metab 82:1561-5 (1997)
DOI:10.1210/jcem.82.5.3918
Reference
  Authors
Romero CJ, Nesi-Franca S, Radovick S
  Title
The molecular basis of hypopituitarism.
  Journal
Trends Endocrinol Metab 20:506-16 (2009)
DOI:10.1016/j.tem.2009.06.005
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

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