Version: 8.0.0
Date: Tue Jan 28 2025
TFAM
Homo sapiensHGNC:11741
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TFAM

Species
Homo sapiens
Symbol
TFAM
Name
transcription factor A, mitochondrial
Synonyms
  • mitochondrial transcription factor 1
  • mitochondrial transcription factor A
Biotype
protein coding gene
Automated Description
Enables chromatin binding activity; mitochondrial promoter sequence-specific DNA binding activity; and mitochondrial transcription factor activity. Involved in positive regulation of DNA-templated transcription and transcription initiation at mitochondrial promoter. Located in mitochondrial nucleoid. Part of protein-containing complex. Implicated in Alzheimer's disease; Huntington's disease; Parkinson's disease; amyotrophic lateral sclerosis; and mitochondrial DNA depletion syndrome 15. Biomarker of obesity.
RGD 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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46318
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          TFAM molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            TFAM role
            TFAM genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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