Version: 8.0.0
Date: Tue Jan 28 2025
TWNK
Homo sapiensHGNC:1160
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TWNK

Species
Homo sapiens
Symbol
TWNK
Name
twinkle mtDNA helicase
Synonyms
  • ataxin 8
  • ATXN8
Biotype
protein coding gene
Automated Description
Enables several functions, including 5'-3' DNA helicase activity; ATP hydrolysis activity; and identical protein binding activity. Involved in DNA-templated DNA replication; mitochondrial transcription; and protein hexamerization. Located in mitochondrial nucleoid. Is active in mitochondrial chromosome. Implicated in Perrault syndrome; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; chronic progressive external ophthalmoplegia; and mitochondrial DNA depletion syndrome 7.
RGD Description
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12873
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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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
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      Transgenic Alleles

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

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

          Genome location
          Assembly version
          GRCh38
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          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

          TWNK molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

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