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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TFAM
transcription factor A, mitochondrial
Chromosome 10 Β· 10q21.1
NCBI Gene: 7019Ensembl: ENSG00000108064.12HGNC: HGNC:11741UniProt: E5KSU5
350PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial promoter sequence-specific DNA bindingtranscription initiation at mitochondrial promotermitochondrionmitochondrial nucleoidmitochondrial DNA depletion syndrome 15 (hepatocerebral type)neurodegenerative diseasesensorineural hearing lossSensorineural hearing impairment
✦AI Summary

TFAM (transcription factor A, mitochondrial) is a critical transcriptional regulator that binds to mitochondrial DNA (mtDNA) and functions as part of the mitochondrial transcription initiation complex to enable basal transcription of mitochondrial genes 1. The protein bends mitochondrial promoter DNA through its HMG box domains and is required for maintenance of normal mtDNA levels and mitochondrial function. Beyond its classical transcriptional role, TFAM serves as an autophagy receptor that limits inflammation by binding cytoplasmic mtDNA through its LC3-interacting region (LIR) motif, facilitating autophagic clearance of leaked mtDNA via a process termed nucleoid-phagy 2. TFAM activity is regulated by post-translational modifications, including SIRT3-mediated deacetylation that enhances its transcriptional function 3. The protein's expression is controlled by DNA methylation regulators DNMT3A and TET2, and its deficiency can trigger inflammatory responses through cGAS signaling 4. TFAM dysfunction is associated with mitochondrial DNA depletion syndrome and has implications in cancer metastasis, where TFAM loss promotes nuclear actin assembly and enhances metastatic potential 5. During spermatogenesis, TFAM relocalization from mitochondria to nucleus correlates with mtDNA elimination, contributing to maternal inheritance patterns 6.

Sources cited
1
TFAM binds mitochondrial DNA and functions in transcriptional regulation, with 6mA methylation affecting TFAM binding
PMID: 32183942
2
TFAM serves as autophagy receptor limiting inflammation by binding cytoplasmic mtDNA through LIR motif
PMID: 38783142
3
SIRT3-mediated deacetylation activates TFAM transcriptional function
PMID: 39609546
4
DNMT3A and TET2 regulate TFAM expression to maintain mitochondrial DNA integrity
PMID: 35931086
5
TFAM deficiency promotes cancer metastasis through nuclear actin assembly
PMID: 35451091
6
TFAM relocalization during spermatogenesis correlates with mtDNA elimination and maternal inheritance
PMID: 37723262
Disease Associationsβ“˜21
mitochondrial DNA depletion syndrome 15 (hepatocerebral type)Open Targets
0.69Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
sensorineural hearing lossOpen Targets
0.11Weak
Premature ovarian insufficiencyOpen Targets
0.11Weak
Sensorineural hearing impairmentOpen Targets
0.11Weak
spondylolisthesisOpen Targets
0.10Weak
open-angle glaucomaOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.10Suggestive
musculoskeletal system diseaseOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
melanomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.08Suggestive
acute kidney injuryOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.07Suggestive
Myocardial IschemiaOpen Targets
0.07Suggestive
Mycoplasmoides infectionOpen Targets
0.07Suggestive
Mitochondrial DNA depletion syndrome 15, hepatocerebral typeUniProt
Pathogenic Variants2
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)Likely pathogenic
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
β˜…β˜†β˜†β˜†2015β†’ Residue 178
NM_003201.3(TFAM):c.441del (p.Glu148fs)Likely pathogenic
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
β˜…β˜†β˜†β˜†β†’ Residue 148
View on ClinVar β†—
Related Genes
PPARGC1AProtein interaction100%TP53Protein interaction100%DNM1LProtein interaction100%SIRT3Protein interaction98%GABPAProtein interaction97%GABPB1Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
91%
Heart
67%
Liver
51%
Ovary
38%
Lung
28%
Gene Interaction Network
Click a node to explore
TFAMPPARGC1ATP53DNM1LSIRT3GABPAGABPB1
PROTEIN STRUCTURE
Preparing viewer…
PDB3FGH Β· 1.35 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.74LoF Tolerant
pLIβ“˜
0.09Tolerant
Observed/Expected LoF0.46 [0.29–0.74]
RankingsWhere TFAM stands among ~20K protein-coding genes
  • #901of 20,598
    Most Researched350 Β· top 5%
  • #4,209of 5,498
    Most Pathogenic Variants2
  • #5,839of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedTFAM
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
TFAM is an autophagy receptor that limits inflammation by binding to cytoplasmic mitochondrial DNA.
PMID: 38783142
Nat Cell Biol Β· 2024
1.00
2
Mitochondrial DNA stress triggers autophagy-dependent ferroptotic death.
PMID: 32186434
Autophagy Β· 2021
0.90
3
Melatonin attenuates sepsis-induced acute kidney injury by promoting mitophagy through SIRT3-mediated TFAM deacetylation.
PMID: 37651673
Autophagy Β· 2024
0.80
4
Molecular basis for maternal inheritance of human mitochondrial DNA.
PMID: 37723262
Nat Genet Β· 2023
0.70
5
Anti-TFAM antibodies link mitochondrial damage with antiphospholipid syndrome and thrombosis in SLE.
PMID: 40350373
Ann Rheum Dis Β· 2025
0.60