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Chromosome 10 Open Reading Frame 2 (C10ORF2) ELISA Kits

C10ORF2 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. Additionally we are shipping Chromosome 10 Open Reading Frame 2 Antibodies (49) and Chromosome 10 Open Reading Frame 2 Proteins (5) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human C10ORF2 C10ORF2 56652 Q96RR1
Anti-Rat C10ORF2 C10ORF2 309441  
Anti-Mouse C10ORF2 C10ORF2 226153 Q8CIW5
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More ELISA Kits for Chromosome 10 Open Reading Frame 2 Interaction Partners

Human Chromosome 10 Open Reading Frame 2 (C10ORF2) interaction partners

  1. We identified a missense mutation in c10orf2 in an Iranian family with an association to progressive external ophthalmoplegia, myopathy, dysphagia, dysphonia, and behavior change. Early death was also a novel feature in affected family members.

  2. An electron microscopy model of Twinkle reveals a hexameric two-layered ring comprising the zinc-binding domain and RNA polymerase domain in one layer and the RecA-like hexamerization C-terminal domain in another.

  3. Identified compound heterozygous mutations of the C10orf2 gene as the cause of infantile-onset spinocerebellar ataxia (show USP14 ELISA Kits) with sensorimotor polyneuropathy and myopathy.

  4. The mitochondrial replicative helicase Twinkle inefficiently unwinds well characterized intermolecular and intramolecular G-quadruplex DNA substrates, as well as a unimolecular G4 substrate.

  5. 16-year follow-up of autosomal dominant progressive external ophthalmoplegia (adPEO) due to the p.R357P gene mutation in PEO1; adPEO due to this mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly; ophthalmoparesis, if present, is mild

  6. Overexpression of Twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species.

  7. analysis did not reveal disease causing POLG (show POLG ELISA Kits) or PEO1 mutations in patients with atypical parkinsonism

  8. Overexpression of d-mtDNA helicase containing either the K388A or A442P mutations causes a mitochondrial oxidative phosphorylation (OXPHOS) defect that significantly reduces cell proliferation.

  9. A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified in a family with infantile onset spinocerebellar ataxia (show USP14 ELISA Kits).

  10. PEO1 sequencing discloses novel mutations in exons 1 and 4 of the gene in chronic external ophthalmoplegia; this is the first report of a mutation occurring in exon 4.

Mouse (Murine) Chromosome 10 Open Reading Frame 2 (C10ORF2) interaction partners

  1. study describes findings in a family with late onset parkinsonism and progressive external ophthalmoplegia, with mutation of G1750A in the exon 1 of PEO1 gene

  2. TWINKLE is essential for nascent H-strand synthesis in the D-loop, thus showing that there is no separate DNA helicase responsible for replication of this region.

Chromosome 10 Open Reading Frame 2 (C10ORF2) Antigen Profile

Antigen Summary

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.

Gene names and symbols associated with C10ORF2

  • chromosome 10 open reading frame 2 (c10orf2) antibody
  • chromosome 10 open reading frame 2 (C10orf2) antibody
  • chromosome 28 open reading frame, human C10orf2 (C28H10orf2) antibody
  • progressive external ophthalmoplegia 1 (Peo1) antibody
  • progressive external ophthalmoplegia 1 (PEO1) antibody
  • progressive external ophthalmoplegia 1 (human) (Peo1) antibody
  • ATXN8 antibody
  • C6H10orf2 antibody
  • D19Ertd626e antibody
  • IOSCA antibody
  • MTDPS7 antibody
  • PEO antibody
  • PEO1 antibody
  • PEOA3 antibody
  • SANDO antibody
  • SCA8 antibody
  • Twinl antibody

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

GENE ID SPECIES
414487 Xenopus laevis
710958 Macaca mulatta
56652 Homo sapiens
486845 Canis lupus familiaris
309441 Rattus norvegicus
425626 Gallus gallus
226153 Mus musculus
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