PEO1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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RefSeq (protein)

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Twinkle protein is a mitochondrial protein that in humans is encoded by the C10orf2 gene.[1][2][3][4]

Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars (Spelbrink et al., 2001).[supplied by OMIM][4]

References

  1. Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C (Jun 2001). "Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria". Nat Genet. 28 (3): 223–31. doi:10.1038/90058. PMID 11431692.
  2. Leipe DD, Aravind L, Grishin NV, Koonin EV (Mar 2000). "The bacterial replicative helicase DnaB evolved from a RecA duplication". Genome Res. 10 (1): 5–16. doi:10.1101/gr.10.1.5. PMID 10645945.
  3. Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L (Oct 2005). "Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky". Hum Mol Genet. 14 (20): 2981–90. doi:10.1093/hmg/ddi328. PMID 16135556.
  4. 4.0 4.1 "Entrez Gene: PEO1 progressive external ophthalmoplegia 1".

Further reading




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