KEGG   NETWORK: N00875
Entry
N00875                      Network                                

Name
Mutation-inactivated GnRHR to GnRH-GnRHR-PLCB-PKC signaling pathway
Definition
GNRH1/2 // GNRHR* // (GNAQ,GNA11) -> PLCB -> (Ca2+,DAG) -> PKC -> RAF1 -> MEK -> ERK -> ELK1 => (LHB,CGA,FSHB)
  Expanded
(2796,2797) // 2798v1 // (2776,2767) -> (23236,5330,5331,5332) -> (C00076,C00165) -> (5578,5579,5582) -> 5894 -> (5604,5605) -> (5594,5595) -> 2002 => (3972,1081,2488)
Class
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
Type
Variant
Disease
H00255  Hypogonadotropic hypogonadism
Gene
2796  GNRH1; gonadotropin releasing hormone 1
2797  GNRH2; gonadotropin releasing hormone 2
2798  GNRHR; gonadotropin releasing hormone receptor
2776  GNAQ; G protein subunit alpha q
2767  GNA11; G protein subunit alpha 11
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
5894  RAF1; Raf-1 proto-oncogene, serine/threonine kinase
5604  MAP2K1; mitogen-activated protein kinase kinase 1
5605  MAP2K2; mitogen-activated protein kinase kinase 2
5594  MAPK1; mitogen-activated protein kinase 1
5595  MAPK3; mitogen-activated protein kinase 3
2002  ELK1; ETS transcription factor ELK1
3972  LHB; luteinizing hormone beta polypeptide
1081  CGA; glycoprotein hormones, alpha polypeptide
2488  FSHB; follicle stimulating hormone subunit beta
Variant
2798v1 (GNRHR*)  GNRHR mutation
Metabolite
C00076  Calcium cation
C00165  Diacylglycerol
Reference
  Authors
Aguilar-Rojas A, Perez-Solis MA, Maya-Nunez G
  Title
The gonadotropin-releasing hormone system: Perspectives from reproduction to cancer (Review).
  Journal
Int J Oncol 48:861-8 (2016)
DOI:10.3892/ijo.2016.3346
Reference
  Authors
de Roux N
  Title
GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency.
  Journal
Best Pract Res Clin Endocrinol Metab 20:515-28 (2006)
DOI:10.1016/j.beem.2006.10.005
Reference
  Authors
Cioppi F, Riera-Escamilla A, Manilall A, Guarducci E, Todisco T, Corona G, Colombo F, Bonomi M, Flanagan CA, Krausz C
  Title
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
  Journal
Andrology 7:88-101 (2019)
DOI:10.1111/andr.12563
Reference
  Authors
Bianco SD, Kaiser UB
  Title
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.
  Journal
Nat Rev Endocrinol 5:569-76 (2009)
DOI:10.1038/nrendo.2009.177
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