Symbol
| IGF1R
| contributors: mct/npt/pgu - updated : 02-07-2019
|
HGNC name
| insulin-like growth factor 1 receptor
|
HGNC id
| 5465
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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tumoral
|  
|  
| --over
|  
|
in breast and prostate cancer where it functions as an anti-apoptotic agent by enhancing cell survival | constitutional
| germinal mutation
|  
|  
|  
|
associated with an insensitivity to IGF1 due to IGF1R haploinsufficiency | constitutional
| germinal mutation
|  
|  
|  
|
in intrauterine and postnatal growth retardation | |
Susceptibility
|
to breast cancer with poor survival to spontaneous preterm birth |
Variant & Polymorphism
SNP
, other
| polymorphisms in the IGF1R and IGFBP3 genes may be associated with altered survival among subgroups of breast cancer patients defined by menopausal status |
|
association of a 6-SNP IGF1R haplotype with spontaneous preterm birth in the fetuses |
|
|
Candidate gene
| for low birth weight, insuline resistance and type II diabetes |
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | endocrine | adrenal | |
target for future therapeutic approaches in adrenal neoplasia |
| | |