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 multipl... See more...

Aliases for TFAM Gene

Aliases for TFAM Gene

  • Transcription Factor A, Mitochondrial 2 3 4 5
  • Mitochondrial Transcription Factor 1 3 4
  • Transcription Factor 6 3 4
  • TCF6L2 3 4
  • TCF6 3 4
  • Transcription Factor 6-Like 2 (Mitochondrial Transcription Factor) 3
  • Mitochondrial Transcription Factor A 3
  • Transcription Factor 6-Like 1 3
  • Transcription Factor 6-Like 3 3
  • Transcription Factor 6-Like 2 4
  • MTDPS15 3
  • TCF6L1 3
  • TCF6L3 3
  • MTTF1 3
  • MTTFA 3
  • MtTFA 4
  • MtTF1 4
  • TCF-6 4
  • TFAM 5

External Ids for TFAM Gene

Previous HGNC Symbols for TFAM Gene

  • TCF6
  • TCF6L2

Previous GeneCards Identifiers for TFAM Gene

  • GC10P058940
  • GC10P059170
  • GC10P060037
  • GC10P059490
  • GC10P059491
  • GC10P059815
  • GC10P060146
  • GC10P054134

Summaries for TFAM Gene

Entrez Gene Summary for TFAM Gene

  • 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]

GeneCards Summary for TFAM Gene

TFAM (Transcription Factor A, Mitochondrial) is a Protein Coding gene. Diseases associated with TFAM include Mitochondrial Dna Depletion Syndrome 15 and Mitochondrial Dna Depletion Syndrome 3. Among its related pathways are Apelin signaling pathway and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is HMGB1.

UniProtKB/Swiss-Prot Summary for TFAM Gene

  • Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193, PubMed:32183942). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:20410300). Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase (PubMed:22037172). Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites (PubMed:22037172). Is able to unwind DNA (PubMed:22037172). Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes (PubMed:1737790). Required for maintenance of normal levels of mitochondrial DNA (PubMed:22841477, PubMed:19304746). May play a role in organizing and compacting mitochondrial DNA (PubMed:22037171).

Gene Wiki entry for TFAM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TFAM Gene

Genomics for TFAM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TFAM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J058383 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 266.3 +0.2 194 3.3 BCLAF1 SP1 MYC ZNF600 ZNF580 ZNF592 ZMYM3 POLR2A ZNF223 ZNF10 TFAM NONHSAG005955.2 lnc-IPMK-3 UBE2D1 RF01061-028 BICC1
GH10J058264 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 -117.7 -117666 6.7 SP1 MYC ZNF600 IKZF1 ZNF580 ZNF592 KLF9 POLR2A CEBPA ZNF10 CISD1 IPMK HSALNG0078168 NONHSAG005951.2 UBE2D1 TFAM MN309086
GH10J059172 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +791.4 791443 8 SSRP1 POLR2A YY1 REST KLF11 CHD2 ZNF341 HOMEZ SIN3A KMT2B PHYHIPL CCEPR lnc-FAM13C-6 TFAM FAM13C
GH10J059253 Enhancer 0.6 dbSUPER 32.2 +868.8 868826 0.8 ZNF654 ZNF623 ZNF433 RBM22 REST ZNF518A ZC3H11A ZNF140 ZNF202 ZBTB8A HSALNG0078200 RF00017-600 TFAM PHYHIPL ENSG00000236556 FAM13C
GH10J059254 Enhancer 0.6 dbSUPER 32.2 +871.0 871025 3.3 ZNF654 ZNF623 ZNF433 RBM22 REST ZNF140 ZNF202 ZBTB8A ZXDB ZNF266 RF00017-600 TFAM PHYHIPL ENSG00000236556 FAM13C lnc-PHYHIPL-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TFAM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TFAM

Top Transcription factor binding sites by QIAGEN in the TFAM gene promoter:
  • AhR
  • Arnt
  • C/EBPalpha
  • CHOP-10
  • FOXC1
  • IRF-2
  • POU2F1
  • POU2F1a
  • Sp1

Genomic Locations for TFAM Gene

Latest Assembly
chr10:58,385,345-58,399,220
(GRCh38/hg38)
Size:
13,876 bases
Orientation:
Plus strand

Previous Assembly
chr10:60,145,170-60,158,980
(GRCh37/hg19 by Entrez Gene)
Size:
13,811 bases
Orientation:
Plus strand

chr10:60,144,782-60,158,981
(GRCh37/hg19 by Ensembl)
Size:
14,200 bases
Orientation:
Plus strand

Genomic View for TFAM Gene

Genes around TFAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFAM Gene

Proteins for TFAM Gene

  • Protein details for TFAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00059-TFAM_HUMAN
    Recommended name:
    Transcription factor A, mitochondrial
    Protein Accession:
    Q00059
    Secondary Accessions:
    • A8MRB2
    • A9QXC6
    • B5BU05
    • Q5U0C6

    Protein attributes for TFAM Gene

    Size:
    246 amino acids
    Molecular mass:
    29097 Da
    Quaternary structure:
    • Monomer; binds DNA as a monomer (PubMed:19304746, PubMed:22037171, PubMed:22037172). Homodimer (PubMed:29149603). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT (PubMed:29149603). In this complex TFAM recruits POLRMT to the promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603). Upon metabolic stress, forms a complex composed of FOXO3, SIRT3, TFAM and POLRMT (PubMed:29445193, PubMed:12897151). Interacts with TFB1M and TFB2M (PubMed:12897151). Interacts with CLPX; this enhances DNA-binding (PubMed:22841477).

    Three dimensional structures from OCA and Proteopedia for TFAM Gene

    Alternative splice isoforms for TFAM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFAM Gene

Post-translational modifications for TFAM Gene

  • Phosphorylation by PKA within the HMG box 1 impairs DNA binding and promotes degradation by the AAA+ Lon protease.
  • Ubiquitination at Lys52, Lys62, Lys76, and Lys118
  • Modification sites at PhosphoSitePlus

Other Protein References for TFAM Gene

Antibodies for research

  • Abcam antibodies for TFAM

No data available for DME Specific Peptides for TFAM Gene

Domains & Families for TFAM Gene

Gene Families for TFAM Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TFAM Gene

Suggested Antigen Peptide Sequences for TFAM Gene

GenScript: Design optimal peptide antigens:
  • TFAM protein (Q05D31_HUMAN)
  • TFAM protein (Q3SX57_HUMAN)
  • TFAM protein (Q6LES8_HUMAN)
  • Transcription factor 6-like 2 (TFAM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00059

UniProtKB/Swiss-Prot:

TFAM_HUMAN :
  • Binds DNA via its HMG boxes. When bound to the mitochondrial light strand promoter, bends DNA into a U-turn shape, each HMG box bending the DNA by 90 degrees.
Domain:
  • Binds DNA via its HMG boxes. When bound to the mitochondrial light strand promoter, bends DNA into a U-turn shape, each HMG box bending the DNA by 90 degrees.
genes like me logo Genes that share domains with TFAM: view

Function for TFAM Gene

Molecular function for TFAM Gene

UniProtKB/Swiss-Prot Function:
Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193, PubMed:32183942). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:20410300). Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase (PubMed:22037172). Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites (PubMed:22037172). Is able to unwind DNA (PubMed:22037172). Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes (PubMed:1737790). Required for maintenance of normal levels of mitochondrial DNA (PubMed:22841477, PubMed:19304746). May play a role in organizing and compacting mitochondrial DNA (PubMed:22037171).
GENATLAS Biochemistry:
transcription factor A,mitochondrial

Phenotypes From GWAS Catalog for TFAM Gene

Gene Ontology (GO) - Molecular Function for TFAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0001018 mitochondrial promoter sequence-specific DNA binding IDA 19304746
GO:0001223 transcription coactivator binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 18063578
genes like me logo Genes that share ontologies with TFAM: view
genes like me logo Genes that share phenotypes with TFAM: view

Human Phenotype Ontology for TFAM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TFAM Gene

MGI Knock Outs for TFAM:
  • Tfam Tfam<tm1.1Lrsn>

miRNA for TFAM Gene

miRTarBase miRNAs that target TFAM

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFAM

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TFAM Gene

Localization for TFAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFAM Gene

Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFAM gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TFAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,HDA 21630459
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
GO:0032991 protein-containing complex IDA 29445193
genes like me logo Genes that share ontologies with TFAM: view

Pathways & Interactions for TFAM Gene

genes like me logo Genes that share pathways with TFAM: view

Pathways by source for TFAM Gene

8 Qiagen pathways for TFAM Gene
  • Epithelial Adherens Junctions
  • Factors Promoting Cardiogenesis in Vertebrates
  • Human Embryonic Stem Cell Pluripotency
  • ILK Signaling
  • JNK Pathway
2 Cell Signaling Technology pathways for TFAM Gene

SIGNOR curated interactions for TFAM Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TFAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006390 mitochondrial transcription IMP 22037171
GO:0006391 transcription initiation from mitochondrial promoter IBA,TAS --
GO:0007005 mitochondrion organization TAS --
GO:0033108 mitochondrial respiratory chain complex assembly IEA --
genes like me logo Genes that share ontologies with TFAM: view

Drugs & Compounds for TFAM Gene

(10) Drugs for TFAM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for TFAM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TFAM: view

Transcripts for TFAM Gene

mRNA/cDNA for TFAM Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFAM

Alternative Splicing Database (ASD) splice patterns (SP) for TFAM Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for TFAM Gene

GeneLoc Exon Structure for
TFAM

Expression for TFAM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TFAM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TFAM Gene

This gene is overexpressed in Plasma (11.4) and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TFAM Gene



Protein tissue co-expression partners for TFAM Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TFAM

SOURCE GeneReport for Unigene cluster for TFAM Gene:

Hs.594250

Evidence on tissue expression from TISSUES for TFAM Gene

  • Blood(4.5)
  • Nervous system(3.9)
  • Muscle(3.2)
  • Heart(3)
  • Liver(3)
  • Kidney(2.8)
  • Intestine(2.5)
  • Thyroid gland(2.4)
  • Eye(2.4)
  • Skin(2.4)
  • Spleen(2.4)
  • Lung(2.4)
  • Pancreas(2.3)
  • Lymph node(2.2)
  • Stomach(2.2)
  • Bone marrow(2.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with TFAM: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TFAM Gene

Orthologs for TFAM Gene

This gene was present in the common ancestor of animals.

Orthologs for TFAM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TFAM 29 30
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TFAM 29 30
  • 84.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TFAM 29 30
  • 83.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tfam 29
  • 73.59 (n)
Mouse
(Mus musculus)
Mammalia Tfam 29 16 30
  • 73.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 43 (a)
OneToMany
-- 30
  • 42 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 40 (a)
OneToMany
-- 30
  • 38 (a)
OneToMany
Chicken
(Gallus gallus)
Aves TFAM 29 30
  • 55.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TFAM 30
  • 42 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tfam 29
  • 53.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii tfam 29 30
  • 54.35 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta TFAM 29 30
  • 44.38 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008499 29
  • 41.8 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 23 (a)
OneToOne
Species where no ortholog for TFAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TFAM Gene

ENSEMBL:
Gene Tree for TFAM (if available)
TreeFam:
Gene Tree for TFAM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TFAM: view image
Alliance of Genome Resources:
Additional Orthologs for TFAM

Paralogs for TFAM Gene

(1) SIMAP similar genes for TFAM Gene using alignment to 7 proteins:

  • TFAM_HUMAN
  • E5KSU5_HUMAN
  • H7BYN3_HUMAN
  • L8ECA1_HUMAN
  • Q05D31_HUMAN
  • Q3SX57_HUMAN
  • Q6LES8_HUMAN

Pseudogenes.org Pseudogenes for TFAM Gene

genes like me logo Genes that share paralogs with TFAM: view

Variants for TFAM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TFAM Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1033983 Pathogenic: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 58,388,809(+) C/CA
NM_003201.3(TFAM):c.441dup (p.Glu148fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
869199 Uncertain Significance: Sensorineural hearing loss; Premature ovarian insufficiency 58,395,027(+) C/T
NM_003201.3(TFAM):c.694C>T (p.Arg232Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs10763537 Benign: not provided 58,388,024(+) G/A
NM_003201.3(TFAM):c.221-166G>A
INTRON
rs12247015 Benign: not provided 58,385,319(+) A/G
NM_001270782.1(TFAM):c.-229A>G
rs144013364 Benign: not provided 58,395,056(+) T/C
NM_003201.3(TFAM):c.723T>C (p.Tyr241=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TFAM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for TFAM Gene

Residual Variation Intolerance Score: 41.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TFAM Gene

Human Gene Mutation Database (HGMD)
TFAM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFAM
Leiden Open Variation Database (LOVD)
TFAM

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TFAM Gene

Disorders for TFAM Gene

MalaCards: The human disease database

(34) MalaCards diseases for TFAM Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 15
  • mtdps15
mitochondrial dna depletion syndrome 3
  • mtdps3
mitochondrial dna depletion syndrome
  • mtdna depletion syndrome
aging
mitochondrial disorders
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards
Search TFAM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TFAM_HUMAN
  • Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15) [MIM:617156]: An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. {ECO:0000269 PubMed:27448789}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TFAM

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TFAM: view

No data available for Genatlas for TFAM Gene

Publications for TFAM Gene

  1. Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy. (PMID: 19096125) Alonso-Montes C … Coto E (Disease markers 2008) 3 4 22 40
  2. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. (PMID: 27448789) Stiles AR … Abdenur JE (Molecular genetics and metabolism 2016) 3 4 72
  3. Mitochondrial transcription factor A variants and the risk of Parkinson's disease. (PMID: 19925850) Gaweda-Walerych K … Zekanowski C (Neuroscience letters 2010) 3 22 40
  4. Structural analysis and DNA binding of the HMG domains of the human mitochondrial transcription factor A. (PMID: 19304746) Gangelhoff TA … Churchill ME (Nucleic acids research 2009) 3 4 22
  5. Maternal pregestational BMI is associated with methylation of the PPARGC1A promoter in newborns. (PMID: 19148128) Gemma C … Pirola CJ (Obesity (Silver Spring, Md.) 2009) 3 22 40

Products for TFAM Gene

  • Addgene plasmids for TFAM

Sources for TFAM Gene