NETWORK: N00884 Help
Entry
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
nt06361 Hypogonadotropic hypogonadism
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*) TACR3 mutation
Metabolite
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
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
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
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