|+1 404 474 4654|
|+1 888 205 9894 (TF)|
Chromosome 10 Open Reading Frame 2 (C1ORF2) (C-Term) Peptide
|Synonyms||COTE1, C1orf2, MGC81247, PEO, PEO1, SCA8, ATXN8, IOSCA, PEOA3, SANDO, TWINL, FLJ21832|
|1 reference available|
|Price||49.50 $ Plus shipping costs $45.00|
|Availability||Will be delivered in 2 to 3 Business Days|
|Characteristics||Blocking peptide for C10orf2 (C-term) antibody ABIN656726|
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.
|Storage||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|
|Restrictions||For Research Use only|
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).