LongevityMap Gene
Gene details
- HGNC symbol
- TSFM
- Aliases
- EFTS; EFTSMT
- Common name
- Ts translation elongation factor, mitochondrial
- Description
- This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
- Cytogenetic Location
- 12q14.1
- UCSC Genome Browser
- View 12q14.1 on the UCSC genome browser
- OMIM
- 604723
- Ensembl
- ENSG00000123297
- UniProt/Swiss-Prot
- E5KS95_HUMAN
- Entrez Gene
- 10102
- UniGene
- 632704
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- tsfm-1
- Danio rerio
- tsfm
- Drosophila melanogaster
- CG6412
- Mus musculus
- Tsfm
- Rattus norvegicus
- Tsfm
- Schizosaccharomyces pombe
- tsf1
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American
- Study Design
- A genome-wide linkage scan was performed for healthy aging in family study data, followed by fine-mapping by association in a separate population. A frailty index, called FI34, was introduced as a quantitative measure of healthy aging.
- Conclusions
- A single linkage peak was found on chromosome 12 in the genome-wide linkage scan. Fine-scale association mapping identified three sites associated with healthy aging in intergenic regions at 12q13-14.
- Indentifier
- rs6581155
- Reference