KEGG   NETWORK: N00874Help
Entry
N00874                      Network                                

Name
Mutation-inactivated GnRH to GnRH-GnRHR-PLCB-PKC signaling pathway
Definition
GNRH1* // GNRHR
  Expanded
2796v1 // 2798
Class
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
Type
Variant
Pathway
hsa04912  GnRH signaling pathway
Disease
H00255  Hypogonadotropic hypogonadism
Gene
2796  GNRH1; gonadotropin releasing hormone 1
2798  GNRHR; gonadotropin releasing hormone receptor
Variant
2796v1  GNRH1 mutation
Reference
  Authors
Bouligand J, Ghervan C, Tello JA, Brailly-Tabard S, Salenave S, Chanson P, Lombes M, Millar RP, Guiochon-Mantel A, Young J
  Title
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.
  Journal
N Engl J Med 360:2742-8 (2009)
DOI:10.1056/NEJMoa0900136

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