KEGG   NETWORK: N00884Help
Entry
N00884                      Network                                

Name
Mutation-inactivated TACR3 to TAC3-TACR3-PLC-PKC signaling pathway
Definition
TAC3 // TACR3* // GNAQ -> PLCB -> (Ca2+,DAG) -> PKC
  Expanded
6866 // 6870v1 // 2776 -> (23236,5330,5331,5332) -> (C00076,C00165) -> (5578,5579,5582)
Class
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
Type
Variant
Disease
H00255  Hypogonadotropic hypogonadism
Gene
6866  TAC3; tachykinin precursor 3
6870  TACR3; tachykinin receptor 3
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
Variant
6870v1  TACR3 mutation
Metabolite
C00076  Calcium cation
C00165  Diacylglycerol
Reference
  Authors
Noel SD, Abreu AP, Xu S, Muyide T, Gianetti E, Tusset C, Carroll J, Latronico AC, Seminara SB, Carroll RS, Kaiser UB
  Title
TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.
  Journal
FASEB J 28:1924-37 (2014)
DOI:10.1096/fj.13-240630
Reference
  Authors
Francou B, Bouligand J, Voican A, Amazit L, Trabado S, Fagart J, Meduri G, Brailly-Tabard S, Chanson P, Lecomte P, Guiochon-Mantel A, Young J
  Title
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.
  Journal
PLoS One 6:e25614 (2011)
DOI:10.1371/journal.pone.0025614
Reference
  Authors
Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonca BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB
  Title
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
  Journal
J Clin Endocrinol Metab 95:2857-67 (2010)
DOI:10.1210/jc.2009-2320

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