Chromosome 10 Open Reading Frame 2 蛋白 (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. 再加上,我们可以发Chromosome 10 Open Reading Frame 2 抗体 (65)和数多这个蛋白质的别的产品。

列出全部蛋白 基因 基因ID UniProt
C10ORF2 56652 Q96RR1
大鼠 C10ORF2 C10ORF2 309441  
C10ORF2 226153 Q8CIW5
How to order from antibodies-online
  • +1 877 302 8632
  • +1 888 205 9894 (toll-free)
  • 在线下订单
  • orders@antibodies-online.cn

antibodies-online.cn销售最多的Chromosome 10 Open Reading Frame 2 蛋白

Showing 5 out of 7 products:

产品编号 Origin 资源 标记 图像 规格 供应商 交付 价格 详细
Insect Cells His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 60 Days
$9,797.11
详细
Insect Cells 小鼠 His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 60 Days
$9,797.11
详细
酵母菌 His tag 100 μg Log in to see 8至11个工作日
$484.00
详细
小麦胚 GST tag 10 μg Log in to see 11至12个工作日
$414.29
详细
大肠杆菌(E. Coli) 非结合性 SDS-PAGE analysis of Human TWINL Protein. 100 μg Log in to see 11至18个工作日
$596.97
详细

C10ORF2 蛋白 by Origin and Source

Origin 在表达 标记
Human , , ,
, ,
Mouse (Murine)

更多Chromosome 10 Open Reading Frame 2 (C10ORF2)互动伙伴

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

  1. A German cohort of 440 patients undergoing analysis for spinocerebellar ataxia (SCA) diagnosis was screened for DNA repeat expansions in SCA8, SCA10 (显示 ATXN10 蛋白), SCA12 (显示 PPP2R2B 蛋白), SCA36 (显示 NOP56 蛋白), FXTAS as well as for the pathogenic hexanucleotide repeat in the C9orf72 (显示 C9ORF72 蛋白) gene. Results found five patients showed 92 or more SCA8 CTA (显示 PCYT1A 蛋白)/CTG combined repeats.

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

  3. 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.

  4. 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).

  5. 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.

  6. 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.

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

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

  9. 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

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

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.

蛋白简介Chromosome 10 Open Reading Frame 2 (C10ORF2)

蛋白简介

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

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

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
Chromosome 10 Open Reading Frame 2 蛋白 (C10ORF2) 精选生产商
您还需要查找其他产品吗?