KEGG   NETWORK: N00877Help
Entry
N00877                      Network                                

Name
Mutation-inactivated FGF17 to RAS-ERK signaling pathway
Definition
FGF17* // FGFR1 -> GRB2 -> SOS -> RAS -> RAF -> MEK -> ERK
  Expanded
8822v1 // 2260 -> 2885 -> (6654,6655) -> (3265,3845,4893) -> (369,673,5894) -> (5604,5605) -> (5594,5595)
Type
Variant
Pathway
hsa04010  MAPK signaling pathway
Disease
H00255  Hypogonadotropic hypogonadism
Gene
8822  FGF17; fibroblast growth factor 17
2260  FGFR1; fibroblast growth factor receptor 1
2885  GRB2; growth factor receptor bound protein 2
6654  SOS1; SOS Ras/Rac guanine nucleotide exchange factor 1
6655  SOS2; SOS Ras/Rho guanine nucleotide exchange factor 2
3265  HRAS; HRas proto-oncogene, GTPase
3845  KRAS; KRAS proto-oncogene, GTPase
4893  NRAS; NRAS proto-oncogene, GTPase
369  ARAF; A-Raf proto-oncogene, serine/threonine kinase
673  BRAF; B-Raf proto-oncogene, serine/threonine kinase
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
Variant
8822v1  FGF17 mutation
Reference
  Authors
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
  Title
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
  Journal
Am J Hum Genet 92:725-43 (2013)
DOI:10.1016/j.ajhg.2013.04.008

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