Chromosome 10 Open Reading Frame 2 Proteine (C10ORF2)

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. Zusätzlich bieten wir Ihnen Chromosome 10 Open Reading Frame 2 Antikörper (55) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
C10ORF2 56652 Q96RR1
Ratte C10ORF2 C10ORF2 309441  
C10ORF2 226153 Q8CIW5
Direkt bei antikoerper-online bestellen
  • +49 (0)241 95 163 153
  • +49 (0)241 95 163 155
  • Online bestellen
  • orders@antikoerper-online.de

Top Chromosome 10 Open Reading Frame 2 Proteine auf antikoerper-online.de

Showing 5 out of 9 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 56 Days
7.380,00 €
Details
Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 56 Days
7.380,00 €
Details
HOST_Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 7 bis 8 Tage
345,60 €
Details
Hefe Human His tag   50 μg Anmelden zum Anzeigen 12 bis 16 Tage
324,76 €
Details
HOST_Escherichia coli (E. coli) Human T7 tag,His tag   100 μg Anmelden zum Anzeigen 13 bis 17 Tage
619,05 €
Details

C10ORF2 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , , ,
, ,
Mouse (Murine)

Weitere Proteine zu Chromosome 10 Open Reading Frame 2 (C10ORF2) Interaktionspartnern

Human Chromosome 10 Open Reading Frame 2 (C10ORF2) Interaktionspartner

  1. ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4 (zeige HSD17B4 Proteine), LARS2 (zeige LARS2 Proteine), CLPP (zeige CLPP Proteine) and C10orf2

  2. It has been demonstrated that MTERF1 arrests mitochondrial DNA (mtDNA) replication with distinct polarity whereby MTERF1 acts as a directional contra-helicase, blocking mtDNA unwinding by the mitochondrial helicase TWINKLE.

  3. sequencing coding regions of C10orf2 revealed three variants in three different patients, of which two were novel (c.1964G>A/p.G655D; c.204G>A/p.G68G) variants and one was reported (c.1052A>G/p. N351S).

  4. 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.

  5. 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.

  6. Identified compound heterozygous mutations of the C10orf2 gene as the cause of infantile-onset spinocerebellar ataxia with sensorimotor polyneuropathy and myopathy.

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

  8. 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

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

  10. analysis did not reveal disease causing POLG (zeige POLG Proteine) or PEO1 mutations in patients with atypical parkinsonism

Mouse (Murine) Chromosome 10 Open Reading Frame 2 (C10ORF2) Interaktionspartner

  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) Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit C10ORF2

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

Bezeichner auf Proteinebene für 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 SPEZIES
414487 Xenopus laevis
710958 Macaca mulatta
56652 Homo sapiens
486845 Canis lupus familiaris
309441 Rattus norvegicus
425626 Gallus gallus
226153 Mus musculus
Ausgewählte Anbieter für Chromosome 10 Open Reading Frame 2 Proteine (C10ORF2)
Haben Sie etwas anderes gesucht?