LongevityMap Gene
Gene details
- HGNC symbol
- TFAM
- Aliases
- TCF6; MTTF1; MTTFA; TCF6L1; TCF6L2; TCF6L3; MTDPS15
- Common name
- transcription factor A, mitochondrial
- Description
- This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
- Cytogenetic Location
- 10q21.1
- UCSC Genome Browser
- View 10q21.1 on the UCSC genome browser
- OMIM
- 600438
- Ensembl
- ENSG00000108064
- UniProt/Swiss-Prot
- E5KSU5_HUMAN
- Entrez Gene
- 7019
- UniGene
- 594250
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as TFAM
Studies (2)
Significant/Non-significant: 0/2
Study 1
- Longevity Association
- Non-significant
- Population
- Spanish
- Study Design
- The association between five common polymorphisms in genes of this pathway and extreme longevity were examined using a case (107 centenarian, 100–111 years, 89 female)-control (284 young adults, ≤50 years, 150 female) design.
- Conclusions
- The studied genetic variants of the PPARD-PPARGC1A-NRF-TFAM pathway were not associated with extreme longevity. A marginal association could exist for rs1937 in TFAM (p=0.003).
- Indentifier
- rs1937
- Reference
Study 2
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
- Indentifier
- rs16912200
- Reference