KEGG   NETWORK: N00883Help
Entry
N00883                      Network                                

Name
Mutation-inactivated TAC3 to TAC3-TACR3-PLC-PKC signaling pathway
Definition
TAC3* // TACR3
  Expanded
6866v1 // 6870
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
Variant
6866v1  TAC3 mutation
Reference
  Authors
Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK
  Title
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
  Journal
Nat Genet 41:354-8 (2009)
DOI:10.1038/ng.306
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

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