PEO1

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Chromosome 10 open reading frame 2
Identifiers
Symbols C10orf2 ; ATXN8; IOSCA; MTDPS7; PEO; PEO1; PEOA3; SANDO; SCA8; TWINL
External IDs OMIM606075 MGI2137410 HomoloGene11052 GeneCards: C10orf2 Gene
EC number 3.6.4.12
RNA expression pattern
PBB GE PEO1 218590 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 56652 226153
Ensembl ENSG00000107815 ENSMUSG00000025209
UniProt Q96RR1 Q8CIW5
RefSeq (mRNA) NM_001163812 NM_153796
RefSeq (protein) NP_001157284 NP_722491
Location (UCSC) Chr 10:
102.75 – 102.75 Mb
Chr 19:
45.01 – 45.01 Mb
PubMed search [1] [2]

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[edit]

  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. ^ a b "Entrez Gene: PEO1 progressive external ophthalmoplegia 1". 

Further reading[edit]