LongevityMap variant group
Entry Details
- Longevity Association
- Significant
- Population
- Italian
- Study Design
- The G/A, codon 1013 polymorphism was examined in healthy people 17-85 yr of age (n= 278; mean age, 54.8; 76 males and 202 females) and in healthy people 86-109 yr of age (n= 218; mean age, 98.0; 56 males and 162 females)
- Conclusions
- The analysis revealed lower free IGF-I plasma levels in IGF1R A subjects (AG and AA genotypes) than in A- (GG genotype) subjects. A subjects were more represented among long-lived people than in young people.
Variants (2)
1.
- Identifier
- G/A
- Cytogenetic Location
- 15q26.3
- UCSC Genome Browser
- View 15q26.3 on the UCSC genome browser
2.
- Identifier
- codon 1013
- 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