KEGG   VARIANT: 6870v1
Entry
6870v1                      Variant                                
Name
TACR3 mutation
Type
Loss of function
Gene
TACR3  tachykinin receptor 3 [KO:K04224]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 162332
Network
nt06323  KISS1-GnRH-LH/FSH-E2 signaling
nt06544  Neuroactive ligand signaling
Disease
H00255  Hypogonadotropic hypogonadism
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
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
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
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