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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. Additionally we are shipping Chromosome 10 Open Reading Frame 2 Proteins (5) and many more products for this protein.
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Chicken Polyclonal C10ORF2 Primary Antibody for WB - ABIN2775251
Farge, Holmlund, Khvorostova, Rofougaran, Hofer, Falkenberg: The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities. in Nucleic acids research 2008
Show all 3 references for ABIN2775251
Human Polyclonal C10ORF2 Primary Antibody for EIA, IHC (p) - ABIN954086
Longley, Humble, Sharief, Copeland: Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. in The Journal of biological chemistry 2010
Show all 2 references for ABIN954086
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 (show USP14 Antibodies) 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 (show POLG Antibodies) or PEO1 mutations in patients with atypical parkinsonism
Overexpression of d-mtDNA helicase containing either the K388A or A442P mutations causes a mitochondrial oxidative phosphorylation (OXPHOS) defect that significantly reduces cell proliferation.
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 Antibodies).
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