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.
Variants (2)
1.
- Identifier
- 1545G>A
- Cytogenetic Location
- 15q26.3
- UCSC Genome Browser
- View 15q26.3 on the UCSC genome browser
2.
- Identifier
- 4103C>T
- Cytogenetic Location
- 15q26.3
- UCSC Genome Browser
- View 15q26.3 on the UCSC genome browser
Gene details
- 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