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Symbol IGF1 contributors: mct/npt/pgu/shn - updated : 19-07-2013
HGNC name insulin-like growth factor 1 (somatomedin C)
HGNC id 5464
corresponding disease(s) IGF1D
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
homozygous deletion in intrauterine growth retardation and severe short stature
  • to type 2 diabetes, myocardial infarction and low birthweight
  • to breast cancer
  • to prostate cancer
  • to adult height variation
  • Variant & Polymorphism repeat , other
  • polymorphism 192-bp allele
  • variant increasing the risk of breast cancer
  • 19-CA-repeat homozygous state may be protecting against prostate cancer
  • Candidate gene
    Therapy target
    IGF-I is a physiological regulator of brain amyloid levels with therapeutic potential
    IGF-I seems to protect neural cells following a physiopathological or an experimental increase in intracellular Ca(2+), an observation that may have therapeutic consequences in neurodegenerative diseases such as retinitis pigmentosa
    IGF1-MEF2D pathway may be a useful target for treatment of cardiac myxoma
  • Newborn mice with IgfI null mutation exhibit a growth deficiency die shortly after birt or can each adulthood (
  • mice with severe IGF-1 deficiency display elevated blood pressure and enhanced myocardial contractility (
  • profound embryonic and postnatal growth retardation in IGF1 knockout mice
  • normoglycemic/normoinsulinemic transgenic mice overexpressing IGF-1 in the retina developed most alterations observed in human diabetic eye disease (
  • mice lacking both Insr and Ifg1r developed diabetes in contrast to mild phenotypes observed in single mutants
  • IGF1 knockout mice have defects in neurologic development
  • IGF1 decreased photoreceptor apoptosis in rd1 mouse retinal explants in parallel with reduced activation of calpain-2 and increased levels of calpastatin and activation of phospho-CREB (