TFAM

Transcription factor A, mitochondrial
Identifiers
Symbols	TFAM ; MtTF1; TCF6; TCF6L2; mtTFA
External IDs	Template:OMIM5 Template:MGI HomoloGene: 31139
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE TFAM 203176 s at tn.png
File:PBB GE TFAM 208541 x at tn.png
File:PBB GE TFAM 203177 x at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Transcription factor A, mitochondrial, also known as TFAM, is a human gene.

This gene encodes a mitochondrial transcription factor that is a key activator of mitochondrial transcription as well as a participant in mitochondrial genome replication. Studies in mice have demonstrated that this gene product is required to regulate the mitochondrial genome copy number and is essential for embryonic development. A mouse model for Kearns-Sayre syndrome was produced when expression of this gene was eliminated by targeted disruption in heart and muscle cells.

Further reading

• Tominaga K, Akiyama S, Kagawa Y, Ohta S (1992). "Upstream region of a genomic gene for human mitochondrial transcription factor 1". Biochim. Biophys. Acta. 1131 (2): 217–9. PMID 1610904.CS1 maint: Multiple names: authors list (link)
• Fisher RP, Lisowsky T, Parisi MA, Clayton DA (1992). "DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein". J. Biol. Chem. 267 (5): 3358–67. PMID 1737790.CS1 maint: Multiple names: authors list (link)
• Parisi MA, Clayton DA (1991). "Similarity of human mitochondrial transcription factor 1 to high mobility group proteins". Science. 252 (5008): 965–9. PMID 2035027.
• Tiranti V, Rossi E, Ruiz-Carrillo A; et al. (1995). "Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis". Genomics. 25 (2): 559–64. PMID 7789991.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tominaga K, Hayashi J, Kagawa Y, Ohta S (1993). "Smaller isoform of human mitochondrial transcription factor 1: its wide distribution and production by alternative splicing". Biochem. Biophys. Res. Commun. 194 (1): 544–51. doi:10.1006/bbrc.1993.1854. PMID 8333869.CS1 maint: Multiple names: authors list (link)
• Larsson NG, Oldfors A, Garman JD; et al. (1997). "Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans". Hum. Mol. Genet. 6 (2): 185–91. PMID 9063738.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lezza AM, Pesce V, Cormio A; et al. (2001). "Increased expression of mitochondrial transcription factor A and nuclear respiratory factor-1 in skeletal muscle from aged human subjects". FEBS Lett. 501 (1): 74–8. PMID 11457459.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Takamatsu C, Umeda S, Ohsato T; et al. (2002). "Regulation of mitochondrial D-loops by transcription factor A and single-stranded DNA-binding protein". EMBO Rep. 3 (5): 451–6. doi:10.1093/embo-reports/kvf099. PMID 11964388.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Falkenberg M, Gaspari M, Rantanen A; et al. (2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA". Nat. Genet. 31 (3): 289–94. doi:10.1038/ng909. PMID 12068295.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reyes A, Mezzina M, Gadaleta G (2002). "Human mitochondrial transcription factor A (mtTFA): gene structure and characterization of related pseudogenes". Gene. 291 (1–2): 223–32. PMID 12095695.CS1 maint: Multiple names: authors list (link)
• Yoshida Y, Izumi H, Ise T; et al. (2002). "Human mitochondrial transcription factor A binds preferentially to oxidatively damaged DNA". Biochem. Biophys. Res. Commun. 295 (4): 945–51. PMID 12127986.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Garrido N, Griparic L, Jokitalo E; et al. (2003). "Composition and dynamics of human mitochondrial nucleoids". Mol. Biol. Cell. 14 (4): 1583–96. doi:10.1091/mbc.E02-07-0399. PMID 12686611.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yoshida Y, Izumi H, Torigoe T; et al. (2003). "P53 physically interacts with mitochondrial transcription factor A and differentially regulates binding to damaged DNA". Cancer Res. 63 (13): 3729–34. PMID 12839966.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McCulloch V, Shadel GS (2003). "Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity". Mol. Cell. Biol. 23 (16): 5816–24. PMID 12897151.
• Deschauer M, Kiefer R, Blakely EL; et al. (2003). "A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia". Neuromuscul. Disord. 13 (7–8): 568–72. PMID 12921794.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Günther C, von Hadeln K, Müller-Thomsen T; et al. (2005). "Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease". Neurosci. Lett. 369 (3): 219–23. doi:10.1016/j.neulet.2004.07.070. PMID 15464268.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kanki T, Ohgaki K, Gaspari M; et al. (2004). "Architectural role of mitochondrial transcription factor A in maintenance of human mitochondrial DNA". Mol. Cell. Biol. 24 (22): 9823–34. doi:10.1128/MCB.24.22.9823-9834.2004. PMID 15509786.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cam H, Balciunaite E, Blais A; et al. (2004). "A common set of gene regulatory networks links metabolism and growth inhibition". Mol. Cell. 16 (3): 399–411. doi:10.1016/j.molcel.2004.09.037. PMID 15525513.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)