Chromosome 10 Open Reading Frame 2 (C1ORF2) (C-Term) Peptide

Details for Product No. ABIN690717
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Protein Name
Synonyms ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL, C6H10orf2, D19Ertd626e, Twinl
Protein Region
C-Term
Source
Synthetic
Antibody Type Synthetic
Application
Blocking Peptide (BP)
Pubmed 1 reference available
Quantity 0.1 mg
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Catalog No. ABIN690717
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Immunogen Synthetic peptide
Alternative Name C10orf2
Background 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.
Restrictions For Research Use only
Storage 4
Storage Comment Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles
Expiry Date 6 months
Background publications Longley, Humble, Sharief et al.: "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, Vol. 285, Issue 39, pp. 29690-702, 2010 (PubMed).

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