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	HGNC	UniGene	Nucleotide	OMIM		UCSC

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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL15QD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed cancer endocrine adrenal target for future therapeutic approaches in adrenal neoplasia

ANIMAL & CELL MODELS