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C10orf2 产品

(Chromosome 10 Open Reading Frame 2 (C10ORF2))

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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].

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Featured C10orf2 Categories

C10orf2 抗体

High quality antibodies with extensive validation data.

C10orf2 蛋白

Proteins for various applications incl. WB, ELISA, IF etc.

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Latest Publications for our C10orf2 Products

Wang, Xu, Alontaga, Chen, Liu: "Impaired p32 regulation caused by the lymphoma-prone RECQ4 mutation drives mitochondrial dysfunction." in: Cell reports, Vol. 7, Issue 3, pp. 848-58, (2014) (PubMed).

Ylikallio, Tyynismaa, Tsutsui, Ide, Suomalainen: "High mitochondrial DNA copy number has detrimental effects in mice." in: Human molecular genetics, Vol. 19, Issue 13, pp. 2695-705, (2010) (PubMed).

Synonyms and alternative names related to C10orf2

twinkle mtDNA helicase L homeolog (twnk.L), twinkle mtDNA helicase (TWNK), twinkle mtDNA helicase (Twnk), ATXN8, C6H10orf2, D19Ertd626e, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL, Twinl

Protein level used designations for C10orf2

  • uncharacterized protein LOC414487
  • twinkle protein, mitochondrial
  • T7 gp4-like protein with intramitochondrial nucleoid localization
  • T7 helicase-related protein with intramitochondrial nucleoid localization
  • T7-like mitochondrial DNA helicase
  • ataxin 8
  • mitochondrial twinkle protein
  • progressive external ophthalmoplegia 1 protein
  • progressive external ophthalmoplegia 1
  • progressive external ophthalmoplegia 1 homolog
  • progressive external ophthalmoplegia 1 protein homolog
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