LongevityMap variant group

Entry Details

Longevity Association: Significant
Population: Ashkenazi Jewish
Study Design: Genetic variation in IGF1 and IGF1R were examined in a cohort of Ashkenazi Jewish centenarians (286 females and 98 males, average age 97.7 years), their offspring (114 females and 174 males, mean age 67.8 years), and offspring-matched controls (n = 312, mean age 79.5 years)
Conclusions: There was an overrepresentation of two nonsynonymous mutations in the IGF1R gene among centenarians relative to controls. These are also associated with high serum IGFI levels and reduced activity of the IGFIR as measured in transformed lymphocytes.

HGNC symbol: IGF1R
Aliases: IGFR; CD221; IGFIR; JTK13
Common name: insulin like growth factor 1 receptor
Description: This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Other longevity studies of this gene: 10
OMIM: 147370
Ensembl: ENSG00000140443
UniProt/Swiss-Prot: C9J5X1_HUMAN
Entrez Gene: 3480
UniGene: 643120
HapMap: View on HapMap

GenAge model organism genes

GenAge human genes

GenDR gene manipulations

Suh et al. (2008)