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.
Identifier
TERC
Cytogenetic Location
3q26.2
UCSC Genome Browser
View 3q26.2 on the UCSC genome browser

Gene details

HGNC symbol
TERC
Aliases
TR; hTR; TRC3; DKCA1; PFBMFT2; SCARNA19 
Common name
telomerase RNA component 
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, and an RNA component, encoded by this gene, that 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. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
602322
Ensembl
ENSG00000270141
UniProt/Swiss-Prot
Entrez Gene
7012
UniGene
436182
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as TERC
CellAge
  • This gene is present as TERC

References

Atzmon et al. (2010)

Other variants which are also part of this study