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FLASH GENE

Symbol

IGF1

contributors: mct/npt/pgu/shn - updated : 19-07-2013

HGNC name	insulin-like growth factor 1 (somatomedin C)
HGNC id	5464

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

IGF1D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     homozygous deletion in intrauterine growth retardation and severe short stature

Susceptibility

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
Marker
Therapy target
	System Type Disorder Pubmed neurology acquired   IGF-I is a physiological regulator of brain amyloid levels with therapeutic potential neurosensorial visual retina 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 tumor     IGF1-MEF2D pathway may be a useful target for treatment of cardiac myxoma

ANIMAL & CELL MODELS

	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 (