KEGG   VARIANT: 6870v1
Entry
6870v1                      Variant                                
Name
TACR3 mutation
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
nt06361  Hypogonadotropic hypogonadism
  Element
N00884  Mutation-inactivated TACR3 to TAC3-TACR3-PLC-PKC signaling pathway
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
LinkDB

DBGET integrated database retrieval system