You are viewing an incomplete version of our website. Please click to reload the website as full version.

Chromosome 10 Open Reading Frame 2 (C10ORF2) (C-Term) Peptide

Details for Product No. ABIN690717, Supplier: Log in to see
Protein Name
  • ATXN8
  • IOSCA
  • MTDPS7
  • PEO
  • PEO1
  • PEOA3
  • SANDO
  • SCA8
  • TWINL
  • C6H10orf2
  • D19Ertd626e
  • Twinl
  • chromosome 10 open reading frame 2
  • chromosome 28 open reading frame, human C10orf2
  • progressive external ophthalmoplegia 1
  • progressive external ophthalmoplegia 1 (human)
  • c10orf2
  • C10orf2
  • C28H10orf2
  • Peo1
  • PEO1
Protein Region
C-Term
Source
Synthetic
Peptide Type
Synthetic
Application
Blocking Peptide (BP)
Options
Supplier
Log in to see
Supplier Product No.
Log in to see
Request

Get this product for free

It's quick and easy to submit your validation proposal. I want to validate this product

Learn more

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, 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, Vol. 285, Issue 39, pp. 29690-702, 2010 (PubMed).