KEGG   NETWORK: N00914Help
Entry
N00914                      Network                                

Name
Mutation-inactivated IGF1R to RAS-ERK signaling pathway
Definition
IGF // IGF1R* // GRB2 -> SOS -> RAS -> RAF -> MEK -> ERK
  Expanded
(3479,3481) // 3480v2 // 2885 -> (6654,6655) -> (3265,3845,4893) -> (369,673,5894) -> (5604,5605) -> (5594,5595)
Class
nt06324 GHRH-GH-IGF signaling
Type
Variant
Pathway
hsa04010  MAPK signaling pathway
Disease
H01274  Growth delay due to insulin-like growth factor I resistance
Gene
3479  IGF1; insulin like growth factor 1
3481  IGF2; insulin like growth factor 2
3480  IGF1R; insulin like growth factor 1 receptor
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
3480v2  IGF1R mutation
Reference
  Authors
Savage MO, Hwa V, David A, Rosenfeld RG, Metherell LA
  Title
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
  Journal
Front Endocrinol (Lausanne) 2:95 (2011)
DOI:10.3389/fendo.2011.00095
Reference
  Authors
Solomon-Zemler R, Basel-Vanagaite L, Steier D, Yakar S, Mel E, Phillip M, Bazak L, Bercovich D, Werner H, de Vries L
  Title
A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.
  Journal
Endocr Connect 6:395-403 (2017)
DOI:10.1530/EC-17-0038

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