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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 (56)和数多这个蛋白质的别的产品。
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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 (显示 LARS2 蛋白), CLPP (显示 CLPP 蛋白) and C10orf2
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.
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).
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.
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.
Identified compound heterozygous mutations of the C10orf2 gene as the cause of infantile-onset spinocerebellar ataxia with sensorimotor polyneuropathy and myopathy.
The mitochondrial replicative helicase Twinkle inefficiently unwinds well characterized intermolecular and intramolecular G-quadruplex DNA substrates, as well as a unimolecular G4 substrate.
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
Overexpression of Twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species.
analysis did not reveal disease causing POLG (显示 POLG 蛋白) or PEO1 mutations in patients with atypical parkinsonism
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
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.
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.
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