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 LinkDB All DBs
