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FLASH GENE
Symbol IGF1R contributors: mct/npt/pgu - updated : 02-07-2019
HGNC name insulin-like growth factor 1 receptor
HGNC id 5465
ASSOCIATED DISORDERS
corresponding disease(s) DEL15QD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
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
    SystemTypeDisorderPubmed
    cancerendocrineadrenal
    target for future therapeutic approaches in adrenal neoplasia
    ANIMAL & CELL MODELS