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