LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Ashkenazi Jewish
Study Design: In a cohort of Ashkenazi Jewish centenarians, their offspring, and offspring-matched controls, the inheritance and maintenance of telomere length and variations in hTERT and hTERC were studied
Conclusions: Sequence analysis of hTERT and hTERC showed overrepresentation of synonymous and intronic mutations among centenarians relative to controls. Moreover, common hTERT haplotype was associated with both exceptional longevity and longer telomere length.

HGNC symbol: TERT
Aliases: TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1
Common name: telomerase reverse transcriptase
Description: Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene: 16
OMIM: 187270
Ensembl: ENSG00000164362
UniProt/Swiss-Prot: TERT_HUMAN
Entrez Gene: 7015
UniGene: 492203
HapMap: View on HapMap

GenAge model organism genes

GenAge human genes

CellAge

Atzmon et al. (2010)