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